Entrez gene ID | | 9381 |
Official gene symbol | | OTOF |
Full name | | otoferlin |
Aliases | | ,AUNB1,DFNB6,DFNB9,FER1L2,NSRD9, |
Gene summary | | Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2p23.1 |
Gene position | | 26781566 - 26680071 Map Viewer |
Gene orientation | | minus |
Gene size | | 101496 bp |
Gene sequence |
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OMIM ID | | 603681 |
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