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otof

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Official Full Name
otoferlin
Background
Otoferlin is a protein that in humans is encoded by the OTOF gene. 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 d
Synonyms
Otoferlin; OTOF; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9