Plays a role in the control of cell shape and motility in the trabecular meshwork.
Expressed in inner ear structures; the cochlea and the vestibule.
Involvement in disease
Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:601369]. DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.
Contains 1 LCCL domain. Contains 2 VWFA domains.
N-glycosylated. A 50 kDa form is created by proteolytic cleavage.
Secreted > extracellular space > extracellular matrix.
Immunohistochemical analysis of formalin-fixed, paraffin-embedded Human skeletal muscle, labeling COCH with ab171410 at 1/10 dilution, followed by peroxidase conjugation of the secondary antibody and DAB staining.
Flow Cytometry - Anti-COCH antibody (ab171410)
Flow cytometric analysis of HeLa cells labeling COCH with ab171410 at 1/10 dilution (right histogram), compared to negative control cells (left histogram). FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.