Gene Symbol | IGHMBP2 |
Entrez Gene ID | 3508 |
Full Name | immunoglobulin mu binding protein 2 |
Synonyms | CATF1,CMT2S,HCSA,HMN6,SMARD1,SMUBP2,ZFAND7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Neuronopathy, distal hereditary motor, type VI, 604320 (3); Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) |