Otoferlin Products

Description

Otoferlin might be involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Mutations in the gene for Otoferlin 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.

Bioinformatics

Uniprot	NP_919224.1 Human Q9HC10 Human
Product By Gene ID	9381
Alternate Names	AUNB1 DFNB6 DFNB9 EC 2.7.10.1 EC 4.2.1.11 FER1L2NSRD9 Fer-1-like protein 2 otoferlin