Gene Symbol | OTOF |
Entrez Gene ID | 9381 |
Full Name | otoferlin |
Synonyms | AUNB1,DFNB6,DFNB9,FER1L2,NSRD9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy, autosomal recessive, 1, 601071 (3) |