TMC2

Function

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function.[7]

Clinical significance

Mutations in this gene may underlie hereditary disorders of balance and hearing.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000149488 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000060332 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. S2CID 40110588.
  6. Kurima K, Yang Y, Sorber K, Griffith AJ (Aug 2003). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis". Genomics. 82 (3): 300–8. doi:10.1016/S0888-7543(03)00154-X. PMID 12906855.
  7. "Entrez Gene: TMC2 transmembrane channel-like 2".

Further reading


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