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Protein structure
OTOF
OtoferlinDFNB6, DFNB9, FER1L2
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]
Top validated antibodies |
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| antibodies-online |  ABIN346891 |
2 references | Monoclonal |
WB
EL
IP
IHC
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| Invitrogen Antibodies | PA5-79776 |
Polyclonal |
WB
IHC
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| NSJ Bioreagents | R32323 |
Polyclonal |
WB
IHC
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| GeneTex | GTX85796 |
Polyclonal |
EL
IHC
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| LSBio | LS-C407830 |
Polyclonal |
WB
IHC
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