Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Konjugation:
Unconjugated
Alternative Synonym:
AUNB1, DFNB6, DFNB9, NSRD9, FER1L2, OTOF
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.
