COCH

Coagulation factor C homolog, cochlin (Limulus polyphemus), also known as COCH, is a human gene.cite web | title = Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1690| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1690| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Khetarpal U, Schuknecht HF, Gacek RR, Holmes LB |title=Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds. |journal=Arch. Otolaryngol. Head Neck Surg. |volume=117 |issue= 9 |pages= 1032–42 |year= 1991 |pmid= 1910721 |doi=
*cite journal | author=Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, "et al." |title=Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. |journal=Genomics |volume=23 |issue= 1 |pages= 42–50 |year= 1995 |pmid= 7829101 |doi= 10.1006/geno.1994.1457
*cite journal | author=Khetarpal U |title=Autosomal dominant sensorineural hearing loss. Further temporal bone findings. |journal=Arch. Otolaryngol. Head Neck Surg. |volume=119 |issue= 1 |pages= 106–8 |year= 1993 |pmid= 8417734 |doi=
*cite journal | author=Manolis EN, Yandavi N, Nadol JB, "et al." |title=A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. |journal=Hum. Mol. Genet. |volume=5 |issue= 7 |pages= 1047–50 |year= 1997 |pmid= 8817345 |doi=
*cite journal | author=Robertson NG, Skvorak AB, Yin Y, "et al." |title=Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. |journal=Genomics |volume=46 |issue= 3 |pages= 345–54 |year= 1998 |pmid= 9441737 |doi= 10.1006/geno.1997.5067
*cite journal | author=Robertson NG, Lu L, Heller S, "et al." |title=Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. |journal=Nat. Genet. |volume=20 |issue= 3 |pages= 299–303 |year= 1998 |pmid= 9806553 |doi= 10.1038/3118
*cite journal | author=de Kok YJ, Bom SJ, Brunt TM, "et al." |title=A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 361–6 |year= 1999 |pmid= 9931344 |doi=
*cite journal | author=Fransen E, Verstreken M, Verhagen WI, "et al." |title=High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1425–9 |year= 1999 |pmid= 10400989 |doi=
*cite journal | author=Kamarinos M, McGill J, Lynch M, Dahl H |title=Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. |journal=Hum. Mutat. |volume=17 |issue= 4 |pages= 351 |year= 2001 |pmid= 11295836 |doi= 10.1002/humu.37
*cite journal | author=Boulassel MR, Tomasi JP, Deggouj N, Gersdorff M |title=COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases. |journal=Otol. Neurotol. |volume=22 |issue= 5 |pages= 614–8 |year= 2001 |pmid= 11568667 |doi=
*cite journal | author=Liepinsh E, Trexler M, Kaikkonen A, "et al." |title=NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. |journal=EMBO J. |volume=20 |issue= 19 |pages= 5347–53 |year= 2001 |pmid= 11574466 |doi= 10.1093/emboj/20.19.5347
*cite journal | author=Robertson NG, Resendes BL, Lin JS, "et al." |title=Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2493–500 |year= 2002 |pmid= 11709536 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Robertson NG, Hamaker SA, Patriub V, "et al." |title=Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. |journal=J. Med. Genet. |volume=40 |issue= 7 |pages= 479–86 |year= 2003 |pmid= 12843317 |doi=
*cite journal | author=Grabski R, Szul T, Sasaki T, "et al." |title=Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. |journal=Hum. Genet. |volume=113 |issue= 5 |pages= 406–16 |year= 2003 |pmid= 12928864 |doi= 10.1007/s00439-003-0992-7
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Lemaire FX, Feenstra L, Huygen PL, "et al." |title=Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family. |journal=Otol. Neurotol. |volume=24 |issue= 5 |pages= 743–8 |year= 2004 |pmid= 14501450 |doi=
*cite journal | author=Usami S, Takahashi K, Yuge I, "et al." |title=Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 10 |pages= 744–8 |year= 2004 |pmid= 14512963 |doi= 10.1038/sj.ejhg.5201043
*cite journal | author=Anderson NL, Polanski M, Pieper R, "et al." |title=The human plasma proteome: a nonredundant list developed by combination of four separate sources. |journal=Mol. Cell Proteomics |volume=3 |issue= 4 |pages= 311–26 |year= 2004 |pmid= 14718574 |doi= 10.1074/mcp.M300127-MCP200

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes