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XB-GENEPAGE-1006199
???displayGene.symbol???:
otof
???displayGene.name???:
otoferlin
???displayGene.synonyms???
(
Nomenclature history )
???displayGene.geneFunction???
Membrane-associated protein FER-1 and related ferlins, contain multiple C2 domains
AI Protein Function
:
The otof gene encodes a multi-C2 domain protein implicated in synaptic vesicle priming and calcium-triggered exocytosis at the ribbon synapses of hair cells in the inner ear and lateral line system. Th...[+]
???displayGene.geneInteractants???
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Diseases:
Disease Ontology:
autosomal recessive nonsyndromic deafness
MIM:
DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9
External Links:
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