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]Sequence: MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNEMLEIQVFNYSKVFSNKLIGTFRMVLQKVVEESHVEVTD
|OTOF (Human) Recombinant Protein (Q01)|
|Antibody Production, Enzyme-linked Immunoabsorbent Assay, Protein Array, Western Blot (Recombinant protein)|
|Store at -80°C. Aliquot to avoid repeated freezing and thawing.|
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