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Cochlin (COCH)

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COCH-5B2; COCH5B2; DFNA31; DFNA9; Coagulation Factor C; Limulus Polyphemus Homolog

Cochlin (COCH)
CCC J406
HGNC 2180
MGI 1278313
PubMed 23684986
RGD 1308536
UniProt O43405
Wiki COCH
Cochlin 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cochlin (COCH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cochlin (COCH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cochlin (COCH) Polyclonal Antibody Customized Service Offer
Assay Kits SEJ406Hu ELISA Kit for Cochlin (COCH) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cochlin (COCH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cochlin (COCH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cochlin (COCH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cochlin (COCH) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cochlin (COCH) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cochlin (COCH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cochlin (COCH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cochlin (COCH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cochlin (COCH) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cochlin (COCH) ELISA Kit Customized Service Offer
  1. "Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9."Genomics 46:345-354(1997) [PubMed] [Europe PMC] [Abstract]
  2. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9."J. Med. Genet. 40:479-486(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear."J. Assoc. Res. Otolaryngol. 8:435-446(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility."PLoS ONE 6:E23070-E23070(2011) [PubMed] [Europe PMC] [Abstract]
  9. "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder."EMBO J. 20:5347-5353(2001) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction."Nat. Genet. 20:299-303(1998) [PubMed] [Europe PMC] [Abstract]
  11. "A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects."Hum. Mol. Genet. 8:361-366(1999) [PubMed] [Europe PMC] [Abstract]
  12. "High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene."Hum. Mol. Genet. 8:1425-1429(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families."Hum. Mutat. 17:351-351(2001) [PubMed] [Europe PMC] [Abstract]
  14. ErratumHum. Mutat. 18:547-548(2001)
  15. "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease."Eur. J. Hum. Genet. 11:744-748(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin."Hum. Genet. 113:406-416(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)."Am. J. Med. Genet. A 140:1791-1794(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Phenotype description of a novel DFNA9/COCH mutation, I109T."Ann. Otol. Rhinol. Laryngol. 116:349-357(2007) [PubMed] [Europe PMC] [Abstract]
  19. "Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families."Clin. Genet. 73:391-394(2008) [PubMed] [Europe PMC] [Abstract]
  20. "A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain."J. Mol. Med. 90:1321-1331(2012) [PubMed] [Europe PMC] [Abstract]
  21. "Whole exome sequencing identifies a novel DFNA9 mutation, C162Y."Clin. Genet. 83:477-481(2013) [PubMed] [Europe PMC] [Abstract]
  22. "Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family."Int. J. Pediatr. Otorhinolaryngol. 77:1711-1715(2013) [PubMed] [Europe PMC] [Abstract]