Recombinant Human Cochlin (COCH)

Uniprot Id

O43405

Target Species

Human

Target Name

COCH

Target Full Name

Cochlin

Target Function

Plays a role in the control of cell shape and motility in the trabecular meshwork.

Target Involvement

Deafness, autosomal dominant, 9 (DFNA9)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Tissue Specificity

Expressed in inner ear structures; the cochlea and the vestibule.

Target Synonyms

COCH; COCH5B2; UNQ257/PRO294Cochlin; COCH-5B2

Target Background

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.