COCH

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

Deafness, autosomal dominant, 9

DFNA9

A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Deafness, autosomal recessive, 110

DFNB110

A form of non-syndromic, sensorineural deafness characterized by prelingual 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. DFNB110 affected individuals additionally exhibit mild, age-dependent vestibular dysfunction.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated.

A 50 kDa form is created by proteolytic cleavage.

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

• Secreted
• Extracellular space
• Extracellular matrix

COCH5B2, UNQ257/PRO294, COCH, Cochlin, COCH-5B2

• entrezGene:1690
• omim:603196
• swissprot:O43405

Proteins

Oncology

59483Da