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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OTOF-20-RE | 20 (40 μL) | 200 μL |  |
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| OTOF-20-OR | 20 (40 μL) | 200 μL |  |
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| OTOF-20-GO | 20 (40 μL) | 200 μL |  |
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| OTOF-20-GR | 20 (40 μL) | 200 μL |  |
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| OTOF-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : OTOF
Gene Name : Otoferlin
Chromosome : CHR 2: 265,586,97-264,572,02
Locus : 2p23.3
Alt. Genes : TRAP1
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