TMC6 explained

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.^{[1] [2]} In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.^[3]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,^[3] which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.

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 .
• Zuo YG, Ma D, Zhang Y, etal . Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. . J. Dermatol. Sci. . 44 . 3 . 153–9 . 2007 . 17008061 . 10.1016/j.jdermsci.2006.08.013 .
• Donfack J, Buchinsky FJ, Derkay CS, etal . Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. . Int. J. Pediatr. Otorhinolaryngol. . 70 . 7 . 1235–40 . 2006 . 16487602 . 10.1016/j.ijporl.2006.01.001 .
• 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 .
• Tate G, Suzuki T, Kishimoto K, Mitsuya T . Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. . J. Hum. Genet. . 49 . 4 . 223–5 . 2004 . 15042430 . 10.1007/s10038-004-0135-6 . free .
• 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 .
• 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 . 2004 . 12906855 . 10.1016/S0888-7543(03)00154-X .
• 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Ramoz N, Taïeb A, Rueda LA, etal . 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 . free .
• Ramoz N, Rueda LA, Bouadjar B, etal . A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. . J. Invest. Dermatol. . 112 . 3 . 259–63 . 1999 . 10084299 . 10.1046/j.1523-1747.1999.00536.x . free .

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 . Nat Genet . 32 . 4 . 579–81 . Nov 2002 . 12426567 . 10.1038/ng1044 . 20013445 .
2. Web site: Entrez Gene: TMC6 transmembrane channel-like 6.
3. Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. The Journal of Experimental Medicine. 2008-01-21. M. Lazarczyk. C Pons . JA Mendoza . P Cassonnet . Y Jacob . M Favre . 205. 1. 35–42. 18158319 . 10.1084/jem.20071311. 2234378 .