Entrez gene ID | | 3508 |
Official gene symbol | | IGHMBP2 |
Full name | | immunoglobulin mu binding protein 2 |
Aliases | | ,CATF1,FLJ34220,FLJ41171,HCSA,HMN6,SMARD1,SMUBP2, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11q13.3 |
Gene position | | 68671319 - 68708069 Map Viewer |
Gene orientation | | plus |
Gene size | | 36751 bp |
Gene sequence |
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OMIM ID | | 600502 |