Products

Western Blot (Transfected lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

OTOF

Gene Alias

DFNB6, DFNB9, FER1L2, NSRD9

Gene Description

otoferlin

Omim ID

Gene Ontology

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

Other Designations

OTTHUMP00000122454|OTTHUMP00000122455