{"symbol":"OTOF","synonyms":["DFNB9","FER1L2","AUNB1","NSRD9"],"name":"otoferlin","description":"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]","ncbiEntrezGeneId":9381,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9381","proteins":[{"symbol":"OTOF_HUMAN","href":"/api/1.0/protein/OTOF_HUMAN"}],"hgncRootFamilies":[{"name":"C2 domain containing","href":"/api/1.0/gene_family/C2+domain+containing"}]}