Aliases for OTOF Gene
External Ids for OTOF Gene
Previous HGNC Symbols for OTOF Gene
Previous GeneCards Identifiers for 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 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]
GeneCards Summary for OTOF Gene
OTOF (Otoferlin) is a Protein Coding gene. Diseases associated with OTOF include Deafness, Autosomal Recessive 9 and Otof-Related Deafness. Gene Ontology (GO) annotations related to this gene include calcium ion binding and AP-2 adaptor complex binding. An important paralog of this gene is FER1L6.
UniProtKB/Swiss-Prot Summary for OTOF Gene
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity).