TMC1

Transmembrane channel-like 1
Identifiers
Symbols	TMC1 ; DFNA36; DFNB11; DFNB7
External IDs	Template:OMIM5 Template:MGI HomoloGene: 23670
Gene ontology Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE TMC1 gnf1h05137 at tn.png
File:PBB GE TMC1 gnf1h05140 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Transmembrane channel-like 1, also known as TMC1, is a human gene.

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.

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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 (1): 24. doi:10.1186/1471-2164-4-24. PMID 12812529.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vreugde S, Erven A, Kros CJ; et al. (2002). "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36". Nat. Genet. 30 (3): 257–8. doi:10.1038/ng848. PMID 11850623.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kurima K, Peters LM, Yang Y; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8755925.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8634715.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)