COCH Antibody

Background:

The protein encoded by this gene is highly conserved inhuman, mouse, and chicken, showing 94% and 79% amino acid identityof human to mouse and chicken sequences, respectively.Hybridization to this gene was detected in spindle-shaped cellslocated along nerve fibers between the auditory ganglion andsensory epithelium. These cells accompany neurites at the habenulaperforata, the opening through which neurites extend to innervatehair cells. This and the pattern of expression of this gene inchicken inner ear paralleled the histologic findings of acidophilicdeposits, consistent with mucopolysaccharide ground substance, intemporal bones from DFNA9 (autosomal dominant nonsyndromicsensorineural deafness 9) patients. Mutations that cause DFNA9 havebeen reported in this gene. Alternative splicing results inmultiple transcript variants encoding the same protein. Additionalsplice variants encoding distinct isoforms have been described buttheir biological validities have not been demonstrated. [providedby RefSeq].