The protein encoded by this gene is highly conserved innhuman, mouse, and chicken, showing 94% and 79% amino acid identitynof human to mouse and chicken sequences, respectively.nHybridization to this gene was detected in spindle-shaped cellsnlocated along nerve fibers between the auditory ganglion andnsensory epithelium. These cells accompany neurites at the habenulanperforata, the opening through which neurites extend to innervatenhair cells. This and the pattern of expression of this gene innchicken inner ear paralleled the histologic findings of acidophilicndeposits, consistent with mucopolysaccharide ground substance, inntemporal bones from DFNA9 (autosomal dominant nonsyndromicnsensorineural deafness 9) patients. Mutations that cause DFNA9 havenbeen reported in this gene. Alternative splicing results innmultiple transcript variants encoding the same protein. Additionalnsplice variants encoding distinct isoforms have been described butntheir biological validities have not been demonstrated. [providednby RefSeq].
应用类型
WB
免疫原
This COCH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 492-520 amino acids from the C-terminal region of human COCH.
