TMC8 explained

Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.^{[1] [2]}

Function

The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs.^[2]

Clinical significance

Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin.^[2]

Further reading

• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Ramoz N, Taïeb A, Rueda LA . Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. . J. Invest. Dermatol. . 114 . 6 . 1148–53 . 2000 . 10844558 . 10.1046/j.1523-1747.2000.00996.x . etal. free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Keresztes G, Mutai H, Heller S . TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. . BMC Genomics . 4 . 1 . 24 . 2003 . 12812529 . 10.1186/1471-2164-4-24 . 165604 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Patel AS, Karagas MR, Pawlita M, etal . Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study. . Int. J. Cancer . 122 . 10 . 2377–9 . 2008 . 18224692 . 10.1002/ijc.23377 . 2705140 .
• Zavattaro E, Azzimonti B, Mondini M, etal . Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations. . J. Invest. Dermatol. . 128 . 3 . 732–5 . 2008 . 17960179 . 10.1038/sj.jid.5701124 . free .
• Lazarczyk M, Pons C, Mendoza JA, etal . Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. . J. Exp. Med. . 205 . 1 . 35–42 . 2008 . 18158319 . 10.1084/jem.20071311 . 2234378 .
• Kurima K, Yang Y, Sorber K, Griffith AJ . Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. . Genomics . 82 . 3 . 300–8 . 2003 . 12906855 . 10.1016/S0888-7543(03)00154-X .
• Rady PL, De Oliveira WR, He Q, etal . Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family. . Br. J. Dermatol. . 157 . 4 . 831–3 . 2007 . 17711520 . 10.1111/j.1365-2133.2007.08123.x . 34199539 .

Notes and References

1. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M . Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis . Nature Genetics . 32 . 4 . 579–81 . December 2002 . 12426567 . 10.1038/ng1044 . 20013445 .
2. Web site: Entrez Gene: TMC8 transmembrane channel-like 8.