NP_001128530.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
cochlin isoform b
NCBI Official Synonym Full Names
cochlin
NCBI Protein Information
cochlin
UniProt Protein Name
Cochlin
UniProt Synonym Protein Names
COCH-5B2
UniProt Synonym Gene Names
NCBI Summary for CLEC4A / CLECSF6 / DCIR
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]
UniProt Comments for CLEC4A / CLECSF6 / DCIR
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.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 14q12
Cellular Component: extracellular matrix
Molecular Function: collagen binding; protein binding
Biological Process: regulation of cell shape
Disease: Deafness, Autosomal Dominant 9
Research Articles on CLEC4A / CLECSF6 / DCIR
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Products associated with CLEC4A / CLECSF6 / DCIR recombinant protein
Diseases associated with CLEC4A / CLECSF6 / DCIR recombinant protein
Organs/Tissues associated with CLEC4A / CLECSF6 / DCIR recombinant protein
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