TMC1

From Wikipedia, the free encyclopedia


Transmembrane channel-like 1
Identifiers
Symbol(s) TMC1; DFNA36; DFNB11; DFNB7
External IDs OMIM: 606706 MGI: 2151016 HomoloGene: 23670
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 117531 13409
Ensembl ENSG00000165091 ENSMUSG00000024749
Uniprot Q8TDI8 Q8CCC1
Refseq NM_138691 (mRNA)
NP_619636 (protein)		 NM_028953 (mRNA)
NP_083229 (protein)
Location Chr 9: 74.33 - 74.64 Mb Chr 19: 20.85 - 21.02 Mb
Pubmed search [1] [2]

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

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.[1]

[edit] References

  1. ^ a b Entrez Gene: TMC1 transmembrane channel-like 1.

[edit] 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 (1): 24. doi:10.1186/1471-2164-4-24. PMID 12812529. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
 This article on a gene on chromosome 9 is a stub. You can help Wikipedia by expanding it.