基因名：
OTOF
产品别名：
AUNB1； DFNB6； DFNB9； FER1L2； NSRD9； OTOF； otoferlin； otoferlin； otoferlin； fer-1-like family member 2； fer-1-like protein 2； 耳聋相关蛋白NSRD9；
背景信息：
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, Jul 2008]
