Species Human Entrez 1690 | Human Mouse Ensembl ENSG00000100473 | |
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Aliases COCH, COCH-5B2, COCH5B2, DFNA9, cochlin External IDs MGI: 1278313 HomoloGene: 20868 GeneCards: COCH | ||
Cochlin is a protein that in humans is encoded by the COCH gene.
Function
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.