COCH

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Cochlin
Protein COCH PDB 1jbi.png
PDB rendering based on 1jbi.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COCH ; COCH-5B2; COCH5B2; DFNA9
External IDs OMIM603196 MGI1278313 HomoloGene20868 GeneCards: COCH Gene
RNA expression pattern
PBB GE COCH 205229 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1690 12810
Ensembl ENSG00000100473 ENSMUSG00000020953
UniProt O43405 Q62507
RefSeq (mRNA) NM_001135058 NM_001198835
RefSeq (protein) NP_001128530 NP_001185764
Location (UCSC) Chr 14:
31.34 – 31.36 Mb
Chr 12:
51.59 – 51.61 Mb
PubMed search [1] [2]

Cochlin is a protein that in humans is encoded by the COCH gene.[1][2]

Function[edit]

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.[2]

References[edit]

  1. ^ Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (Nov 1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nat Genet 20 (3): 299–303. doi:10.1038/3118. PMID 9806553. 
  2. ^ a b "Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)". 

Further reading[edit]