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The official name of this gene is “cochlin.”
COCH is the gene's official symbol. The COCH gene is also known by other names, listed below.
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. [provided by RefSeq, Oct 2008]
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. The disease is caused by mutations affecting the gene represented in this entry.
|601369 (http://omim.org/entry/601369)||DEAFNESS, AUTOSOMAL DOMINANT 9|
Cytogenetic Location: 14q11.2-q13
Molecular Location on chromosome 14: base pairs 30,874,535 to 30,895,079
The COCH gene is located on the long (q) arm of chromosome 14 between positions 11.2 and 13.
More precisely, the COCH gene is located from base pair 30,874,535 to base pair 30,895,079 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about COCH helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; amino acid ; auditory ; autosomal ; autosomal dominant ; cell ; epithelium ; gene ; hair cells ; isoforms ; penetrance ; protein ; sensorineural ; spectrum ; splicing ; trabecular meshwork ; transcript ; vertigo
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.