OTOF
otoferlin
Synonyms:
AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Species:
Human OTOF (9381), Mouse Otof (83762), Rat Otof (84573), naked mole-rat Otof (101698163), domestic guinea pig Otof (100730931), Zebrafish otof (557476), domestic cat OTOF (101083509), chicken OTOF (422007), sheep OTOF (101111175), cow OTOF (617299) ...More
UniProtKB ID:
Gene ID:
- Human(9381) 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]
- Mouse(83762) otoferlin
- Rat(84573) otoferlin
- naked mole-rat(101698163) otoferlin
- domestic guinea pig(100730931) otoferlin
- Zebrafish(557476) otoferlin
- domestic cat(101083509) otoferlin
- chicken(422007) otoferlin
- sheep(101111175) otoferlin
- cow(617299) otoferlin
- Horse(100071343) otoferlin
- dog(607961) otoferlin
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