{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P02545","secondaryAccessions":["B4DI32","D3DVB0","D6RAQ3","E7EUI9","P02546","Q5I6Y4","Q5I6Y6","Q5TCJ2","Q5TCJ3","Q6UYC3","Q969I8","Q96JA2"],"uniProtkbId":"LMNA_HUMAN","entryAudit":{"firstPublicDate":"1986-07-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1987-03-20","entryVersion":286,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Prelamin-A/C"}},"contains":[{"recommendedName":{"fullName":{"value":"Lamin-A/C"}},"alternativeNames":[{"fullName":{"value":"70 kDa lamin"}},{"fullName":{"value":"Renal carcinoma antigen NY-REN-32"}}]}],"flag":"Precursor"},"genes":[{"geneName":{"value":"LMNA"},"synonyms":[{"value":"LMN1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10080180"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10580070"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10587585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10814726"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11799477"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12075506"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12927431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15317753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18551513"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18611980"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2188730"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22431096"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2344612"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23666920"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23990565"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24741066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25127216"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31434876"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31548606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37788673"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37832547"}],"value":"Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:2188730, PubMed:22431096, PubMed:2344612, PubMed:23666920, PubMed:24741066, PubMed:31434876, PubMed:31548606, PubMed:37788673, PubMed:37832547). Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:24741066, PubMed:31548606, PubMed:37788673, PubMed:37832547). Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties (PubMed:23990565, PubMed:25127216). The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively (PubMed:2188730, PubMed:2344612). Lamin A and C are present in equal amounts in the lamina of mammals (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:31548606). Also involved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:10814726, PubMed:11799477, PubMed:18551513, PubMed:22431096). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920)"}],"commentType":"FUNCTION","molecule":"Lamin-A/C"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20458013"}],"value":"Prelamin-A/C can accelerate smooth muscle cell senescence (PubMed:20458013). It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence (PubMed:20458013)"}],"commentType":"FUNCTION","molecule":"Prelamin-A/C"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P48678"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10514485"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12475961"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15476822"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19933576"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21498514"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21949239"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23695662"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23977161"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29599122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31434876"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31548606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33706103"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35311970"}],"value":"Homodimer of lamin A and lamin C (PubMed:15476822, PubMed:31434876, PubMed:33706103). Lamin dimers then assemble into dimeric head-to-tail polymers (PubMed:31434876). Ultimately, two head-to-tail polymers assemble laterally into a protofilament with a uniformly shaped rod of 3.5 nm in diameter (PubMed:31434876). Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 and with emerin (PubMed:12475961). Interacts with SREBF1, SREBF2, SUN2 and TMEM43 (By similarity). Interacts with TMEM201 (PubMed:35311970). Proteolytically processed isoform A interacts with NARF (PubMed:10514485). Interacts with SUN1 (PubMed:19933576). Interacts with MLIP (PubMed:21498514). Interacts with DMPK; may regulate nuclear envelope stability (PubMed:21949239). Interacts with SUV39H1; the interaction increases stability of SUV39H1 (PubMed:23695662). Interacts with SYNE2 (PubMed:23977161). Interacts with ITSN1 isoform 2 (PubMed:29599122). Interacts with IFFO1; enables the formation of an interior nucleoskeleton that is recruited to DNA double-strand breaks (PubMed:31548606)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19323649"}],"value":"Interacts with EMD"}],"commentType":"SUBUNIT","molecule":"Prelamin-A/C"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16339967"}],"value":"Interacts (via C-terminus) with LEMD2 (via N-terminus) (in vitro)"}],"commentType":"SUBUNIT","molecule":"Isoform C"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q6H8Q1-8","geneName":"ABLIM2","intActId":"EBI-16436655"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"P18054","geneName":"ALOX12","intActId":"EBI-1633210"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q96DX5","geneName":"ASB9","intActId":"EBI-745641"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q8WXF7","geneName":"ATL1","intActId":"EBI-2410266"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"P46379-2","geneName":"BAG6","intActId":"EBI-10988864"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q8TBE0","geneName":"BAHD1","intActId":"EBI-742750"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q9ULD4-2","geneName":"BRPF3","intActId":"EBI-23662416"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q96GN5-2","geneName":"CDCA7L","intActId":"EBI-9091443"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q3SX64","geneName":"CIMAP1D","intActId":"EBI-6660184"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q9UII6","geneName":"DUSP13B","intActId":"EBI-749800"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"P50402","geneName":"EMD","intActId":"EBI-489887"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q3B820","geneName":"FAM161A","intActId":"EBI-719941"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"A6H8Z2-3","geneName":"FAM221B","intActId":"EBI-25843965"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"P58499","geneName":"FAM3B","intActId":"EBI-12955347"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q8IZU1","geneName":"FAM9A","intActId":"EBI-8468186"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q8NEA9","geneName":"GMCL2","intActId":"EBI-745707"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"P16104","geneName":"H2AX","intActId":"EBI-494830"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q71DI3","geneName":"H3C15","intActId":"EBI-750650"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q0D2I5-5","geneName":"IFFO1","intActId":"EBI-21251044"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q13123","geneName":"IK","intActId":"EBI-713456"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q14005-2","geneName":"IL16","intActId":"EBI-17178971"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q96EL1","geneName":"INKA1","intActId":"EBI-10285157"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P02545","intActId":"EBI-351935"},"interactantTwo":{"uniProtKBAccession":"Q8NA54","geneName":"IQUB","intActId":"EBI-10220600"},"numberOfExperiments":3,"organismDiffer"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LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15317753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19323649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37788673"}],"value":"Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleavage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina (PubMed:15317753). EMD is required for proper localization of non-farnesylated prelamin-A/C (PubMed:19323649). Also localizes to the micronuclear envelope in response to response to genome instability (PubMed:37788673)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2188730"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2344612"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24741066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37788673"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37832547"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"10080180"}],"value":"Nucleus lamina","id":"SL-0180"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29599122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37788673"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37832547"}],"value":"Nucleus envelope","id":"SL-0178"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15372542"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24741066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31548606"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31548606"}],"value":"Nucleus matrix","id":"SL-0181"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform C","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16061563"}],"value":"Nucleus speckle","id":"SL-0186"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"A"},"synonyms":[{"value":"Lamin-A"}],"isoformIds":["P02545-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"C"},"synonyms":[{"value":"Lamin-C"}],"isoformIds":["P02545-2"],"sequenceIds":["VSP_002469","VSP_002470"],"isoformSequenceStatus":"Described"},{"name":{"value":"ADelta10"},"synonyms":[{"value":"Lamin ADelta10"}],"isoformIds":["P02545-3"],"sequenceIds":["VSP_002468"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["P02545-4"],"sequenceIds":["VSP_045977","VSP_045978","VSP_045979"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["P02545-5"],"sequenceIds":["VSP_053503","VSP_053504"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"synonyms":[{"value":"Progerin"}],"isoformIds":["P02545-6"],"sequenceIds":["VSP_053505"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20458013"}],"value":"In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20458013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8175923"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9030603"}],"value":"Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C (PubMed:20458013, PubMed:8175923, PubMed:9030603). The prelamin-A/C maturation pathway includes farnesylation of CAAX motif by protein farnesyltransferase (FNTA and FNTB), removal of the last three amino acids (-AAX) by RCE1/FACE2 and/or ZMPSTE24, methylation of the C-terminal cysteine by ICMT and endoproteolytic removal of the last 15 C-terminal amino acids by ZMPSTE24 (PubMed:20458013, PubMed:8175923, PubMed:9030603). Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage (PubMed:20458013, PubMed:8175923, PubMed:9030603)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15317753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22355414"}],"value":"Farnesylation of prelamin-A/C facilitates nuclear envelope targeting"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2188730"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2344612"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24741066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25127216"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31548606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37788673"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37832547"}],"value":"Phosphorylation plays a key role in lamin organization, subcellular localization and nuclear envelope disintegration (PubMed:2188730, PubMed:2344612, PubMed:24741066, PubMed:37788673, PubMed:37832547). Phosphorylation by CDK1 at Ser-22 and Ser-392 at the onset of mitosis drives lamin disassembly and nuclear envelope breakdown (PubMed:2188730, PubMed:2344612). Phosphorylation at Ser-22 and Ser-392 during interphase promotes localization to the nucleoplasm and regulates lamina assembly (PubMed:24741066). Phosphorylation at Ser-22, Ser-392 and Ser-628 during interphase causes redistribution between the nucleus and the cytoplasm (PubMed:24741066). Phosphorylation at Ser-22 by CDK1 regulates matrix stiffness (PubMed:25127216). Phosphorylation status of Ser-22 determines its localization between double-strand break (DSB) sites and the nuclear matrix (PubMed:31548606). Phosphorylated by ATR at Ser-282 in response to DNA damage, leading to lamin disassembly and nuclear envelope rupture (PubMed:37832547). Phosphorylation also regulates stability in micronuclei arising from genome instability: phosphorylation at Ser-395 by ATR in response to genome instability and double-stranded DNA breaks primes LMNA for subsequent phosphorylation at Ser-392 by CDK1 and micronuclei envelope rupture (PubMed:37788673). The rupture of micronuclear envelope triggers the cGAS-STING pathway thereby activating the type I interferon response and innate immunity (PubMed:37788673)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P48678"}],"value":"Acetylation by KAT8 is required for nuclear architecture"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18606848"}],"value":"Sumoylation is necessary for the localization to the nuclear envelope"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Emery-Dreifuss muscular dystrophy 2, autosomal dominant","diseaseAccession":"DI-01520","acronym":"EDMD2","description":"A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.","diseaseCrossReference":{"database":"MIM","id":"181350"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22431096"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27234031"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Emery-Dreifuss muscular dystrophy 3, autosomal recessive","diseaseAccession":"DI-03418","acronym":"EDMD3","description":"A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.","diseaseCrossReference":{"database":"MIM","id":"616516"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22431096"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27234031"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cardiomyopathy, dilated, 1A","diseaseAccession":"DI-00210","acronym":"CMD1A","description":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.","diseaseCrossReference":{"database":"MIM","id":"115200"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10580070"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11561226"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11792809"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11897440"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12486434"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12628721"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12920062"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14675861"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14684700"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15140538"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15219508"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15372542"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16061563"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16156025"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18606848"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19167105"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20160190"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21846512"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Lipodystrophy, familial partial, 2","diseaseAccession":"DI-01595","acronym":"FPLD2","description":"An autosomal dominant disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). 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Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.","diseaseCrossReference":{"database":"MIM","id":"151660"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10587585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10655060"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10739751"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11792809"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12015247"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12196663"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12629077"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15372542"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17250669"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19220582"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24485160"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Charcot-Marie-Tooth disease, axonal, type 2B1","diseaseAccession":"DI-00277","acronym":"CMT2B1","description":"A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.","diseaseCrossReference":{"database":"MIM","id":"605588"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11799477"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Hutchinson-Gilford progeria syndrome","diseaseAccession":"DI-01757","acronym":"HGPS","description":"Rare genetic disorder characterized by features reminiscent of marked premature aging.","diseaseCrossReference":{"database":"MIM","id":"176670"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12714972"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12768443"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12927431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15060110"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15286156"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15622532"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19933576"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21791255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22355414"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23666920"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12714972"}],"value":"The disease is caused by variants affecting the gene represented in this entry. 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Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972)"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cardiomyopathy, dilated, with hypergonadotropic hypogonadism","diseaseAccession":"DI-02906","acronym":"CMDHH","description":"A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. 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MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.","diseaseCrossReference":{"database":"MIM","id":"248370"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12075506"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15998779"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16278265"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Restrictive dermopathy 2","diseaseAccession":"DI-06366","acronym":"RSDM2","description":"An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life.","diseaseCrossReference":{"database":"MIM","id":"619793"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15317753"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Heart-hand syndrome Slovenian type","diseaseAccession":"DI-01697","acronym":"HHS-Slovenian","description":"Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations.","diseaseCrossReference":{"database":"MIM","id":"610140"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18611980"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Muscular dystrophy congenital LMNA-related","diseaseAccession":"DI-02702","acronym":"MDCL","description":"A form of congenital muscular dystrophy. 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