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
omim id:
,
Gene Description:
otoferlin
Gene Alias:
DFNB6,DFNB9,FER1L2,NSRD9
Gene Name:
OTOF
Note:
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Storage Instruction:
Store at 4°C. For long term storage store at -20°C. Aliquot to avoid repeated freezing and thawing.
Storage Buffer:
In PBS, pH 7.2 (40% glycerol, 0.02% sodium azide)
Recommend Usage:
Immunohistochemistry (1:50-1:200) The optimal working dilution should be determined by the end user.