Aliases for COCH Gene
External Ids for COCH Gene
Previous HGNC Symbols for COCH Gene
Previous GeneCards Identifiers for COCH Gene
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
GeneCards Summary for COCH Gene
COCH (Cochlin) is a Protein Coding gene. Diseases associated with COCH include Deafness, Autosomal Dominant 9 and Nonsyndromic Deafness. GO annotations related to this gene include collagen binding. An important paralog of this gene is COL12A1.
UniProtKB/Swiss-Prot for COCH Gene
Plays a role in the control of cell shape and motility in the trabecular meshwork.