Gene information for IGHMBP2 (Homo sapiens)
(Information is obtained from NCBI Gene database) |
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: |
Gene position | 68671319 - 68708069 Map Viewer |
OMIM ID | 600502 |