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Validated All-in-One™ qPCR Primer for COCH(NM_001135058.2) Search again
Product ID:
HQP152541
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
COCH-5B2, COCH5B2, DFNA9, DFNB110
Gene Description:
cochlin
Target Gene Accession:
NM_001135058.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
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.
Gene References into function
- Areas that express COCH mRNA as determined by in situ hybridization, and to the regions of the inner ear which show histological abnormalities in autosomal dominant sensorineural deafness and vestibular disorder, DFNA9.
- findings suggest that COCH mutations are unlikely to cause abnormalities in secretion and suggest that extracellular events might cause autosomal dominant sensorineural deafness (DFNA9) pathology
- A multigeneration Belgian family with late-onset progressive sensorineural hearing loss--Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene.
- Cochlin, a protein associated with deafness disorder DFNA9, is present in glaucomatous but absent in normal trabecular meshwork
- A new COCH mutation is identified which causes autosomal dominant hearing impairment.
- Cochlin-specific interferon-gamma-producing T cells are implicated in the etiopathogenesis of autoimmune sensorineural hearing loss.
- the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers
- Data analysis demonstrated a significant association between vertical corneal striae and the Pro51Ser and Gly88Glu mutations in the COCH gene in DFNA9 families 1, 2, and 3 with cochleovestibular dysfunction.
- This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH
- A prominent but previously unreported ribbon-like pattern of cochlin in the basilar membrane was demonstrated, suggesting an important role for cochlin in the structure of the basilar membrane.
- novel mutations in the vWFA2 domain of the COCH gene were identified in Chinese families with autosomal dominant sensorineural non-syndromic hearing loss (HL) 9
- The second von Willebrand type A domain of cochlin has affinity for type II collagen, as well as type I and type IV collagens whereas the LCCL-domain of cochlin has no affinity for these proteins.