Sequence in raw or FASTA format:
COCH cochlin [Homo sapiens (human)]
|Entrez Gene ID||1690|
|Synonyms||COCH-5B2, COCH5B2, DFNA9|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Deafness, autosomal dominant 9, 601369 (3)
|Homo sapiens (human)||COCH||NP_001128530.1|
|Pan troglodytes (chimpanzee)||COCH||XP_001171057.1|
|Macaca mulatta (Rhesus monkey)||COCH||XP_001114797.1|
|Canis lupus familiaris (dog)||COCH||XP_547762.4|
|Bos taurus (cattle)||COCH||NP_001071310.1|
|Mus musculus (house mouse)||Coch||NP_031754.1|
|Gallus gallus (chicken)||COCH||NP_990268.1|
|Danio rerio (zebrafish)||coch||NP_001003823.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||coch||XP_004917329.1|
|GO:0007605||sensory perception of sound||IEA|
|GO:0008360||regulation of cell shape||IMP|
|GO:0005578||proteinaceous extracellular matrix||IEA|
|GO:0070062||extracellular vesicular exosome||IDA|
What is the normal function of the COCH gene?
The COCH gene provides instructions for making a protein called cochlin. This protein is abundant in certain parts of the inner ear called the cochlea and the vestibular system. The cochlea is a snail-shaped structure that helps process sound, and the vestibular system consists of fluid-filled canals that help maintain the body's balance and orientation in space. Cochlin is exported from cells in the cochlea and vestibular system and becomes part of the extracellular matrix. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. Two regions of the cochlin protein, called the LCCL and vWFA domains, probably coordinate cochlin's interactions with other molecules in the extracellular matrix. These interactions are important in forming the extracellular matrix and keeping it organized. Although the exact role of cochlin remains unknown, it likely plays a role in the structure of the inner ear.
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