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Protein Page:
COCH (human)

Overview
COCH Plays a role in the control of cell shape and motility in the trabecular meshwork. Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9). 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. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 14q11.2-q13
Cellular Component: extracellular matrix
Molecular Function: collagen binding; protein binding
Biological Process: regulation of cell shape
Disease: Deafness, Autosomal Dominant 9
Reference #:  O43405 (UniProtKB)
Alt. Names/Synonyms: coagulation factor C homolog, cochlin (Limulus polyphemus); COCH; COCH-5B2; COCH5B2; Cochlin; DFNA9
Gene Symbols: COCH
Molecular weight: 59,483 Da
Basal Isoelectric point: 8.17  Predict pI for various phosphorylation states
Select Structure to View Below

COCH

Protein Structure Not Found.
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