Cochlin Products

Description

COCH is 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]

Bioinformatics

Entrez	1690 Human
Uniprot	AAH07230 Human AAH07230.1 Human O43405 Human
Product By Gene ID	1690
Alternate Names	coagulation factor C (Limulus polyphemus homolog); cochlin coagulation factor C homolog, cochlin (Limulus polyphemus) COCH-5B2COCH5B2 cochlin DFNA9