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The swapped IGHMBP2 protein has decreased substrate-binding and processivity"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22965130"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22999958"}],"value":"The R3H domain recognizes phosphorylated 5'-ends of single-stranded nucleic acids which promotes binding of nucleic acids and stimulates ATPase activity"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Neuronopathy, distal hereditary motor, autosomal recessive 1","diseaseAccession":"DI-00403","acronym":"HMNR1","description":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. 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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). 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