- TMC1
Transmembrane channel-like 1, also known as TMC1, is a human
gene .cite web | title = Entrez Gene: TMC1 transmembrane channel-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117531| accessdate = ]PBB_Summary
section_title =
summary_text = This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness.cite web | title = Entrez Gene: TMC1 transmembrane channel-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117531| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Kitajiri SI, McNamara R, Makishima T, "et al." |title=Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. |journal=Clin. Genet. |volume=72 |issue= 6 |pages= 546–50 |year= 2008 |pmid= 17877751 |doi= 10.1111/j.1399-0004.2007.00895.x
*cite journal | author=Kalay E, Karaguzel A, Caylan R, "et al." |title=Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. |journal=Hum. Mutat. |volume=26 |issue= 6 |pages= 591 |year= 2006 |pmid= 16287143 |doi= 10.1002/humu.9384
*cite journal | author=Meyer CG, Gasmelseed NM, Mergani A, "et al." |title=Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. |journal=Hum. Mutat. |volume=25 |issue= 1 |pages= 100 |year= 2006 |pmid= 15605408 |doi= 10.1002/humu.9302
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Keresztes G, Mutai H, Heller S |title=TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. |journal=BMC Genomics |volume=4 |issue= 1 |pages= 24 |year= 2003 |pmid= 12812529 |doi= 10.1186/1471-2164-4-24
*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=Vreugde S, Erven A, Kros CJ, "et al." |title=Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 257–8 |year= 2002 |pmid= 11850623 |doi= 10.1038/ng848
*cite journal | author=Kurima K, Peters LM, Yang Y, "et al." |title=Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 277–84 |year= 2002 |pmid= 11850618 |doi= 10.1038/ng842
*cite journal | author=Scott DA, Carmi R, Elbedour K, "et al." |title=An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. |journal=Am. J. Hum. Genet. |volume=59 |issue= 2 |pages= 385–91 |year= 1996 |pmid= 8755925 |doi=
*cite journal | author=Jain PK, Fukushima K, Deshmukh D, "et al." |title=A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2391–4 |year= 1996 |pmid= 8634715 |doi=PBB_Controls
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