TMC1
Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene.[1][2][3]
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.[3]
References
- ^ Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (Mar 2002). "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function". Nat Genet 30 (3): 277–84. doi:10.1038/ng842. PMID 11850618.
- ^ Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabe De Angelis M, Avraham KB, Steel KP (Mar 2002). "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36". Nat Genet 30 (3): 257–8. doi:10.1038/ng848. PMID 11850623.
- ^ a b "Entrez Gene: TMC1 transmembrane channel-like 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117531.
Further reading
- Kitajiri SI, McNamara R, Makishima T, et al. (2008). "Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.". Clin. Genet. 72 (6): 546–50. doi:10.1111/j.1399-0004.2007.00895.x. PMID 17877751.
- Kalay E, Karaguzel A, Caylan R, et al. (2006). "Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.". Hum. Mutat. 26 (6): 591. doi:10.1002/humu.9384. PMID 16287143.
- Meyer CG, Gasmelseed NM, Mergani A, et al. (2006). "Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.". Hum. Mutat. 25 (1): 100. doi:10.1002/humu.9302. PMID 15605408.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins.". BMC Genomics 4: 24. doi:10.1186/1471-2164-4-24. PMC 165604. PMID 12812529. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=165604.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Scott DA, Carmi R, Elbedour K, et al. (1996). "An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.". Am. J. Hum. Genet. 59 (2): 385–91. PMC 1914732. PMID 8755925. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914732.
- Jain PK, Fukushima K, Deshmukh D, et al. (1996). "A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.". Hum. Mol. Genet. 4 (12): 2391–4. doi:10.1093/hmg/4.12.2391. PMID 8634715.