TMC8

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.

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.

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• {{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |doi-access=free }}
• {{cite journal |vauthors=Ramoz N, Taïeb A, Rueda LA |title=Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. |journal=J. Invest. Dermatol. |volume=114 |issue= 6 |pages= 1148–53 |year= 2000 |pmid= 10844558 |doi= 10.1046/j.1523-1747.2000.00996.x |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }}
• {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
• {{cite journal |vauthors=Keresztes G, Mutai H, Heller S |title=TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. |journal=BMC Genomics |volume=4 |issue= 1 |pages= 24 |year= 2003 |pmid= 12812529 |doi= 10.1186/1471-2164-4-24 |pmc=165604 |doi-access=free }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal |vauthors=Patel AS, Karagas MR, Pawlita M, etal |title=Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study. |journal=Int. J. Cancer |volume=122 |issue= 10 |pages= 2377–9 |year= 2008 |pmid= 18224692 |doi= 10.1002/ijc.23377 |pmc=2705140 }}
• {{cite journal |vauthors=Zavattaro E, Azzimonti B, Mondini M, etal |title=Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations. |journal=J. Invest. Dermatol. |volume=128 |issue= 3 |pages= 732–5 |year= 2008 |pmid= 17960179 |doi= 10.1038/sj.jid.5701124 |doi-access= free }}
• {{cite journal |vauthors=Lazarczyk M, Pons C, Mendoza JA, etal |title=Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. |journal=J. Exp. Med. |volume=205 |issue= 1 |pages= 35–42 |year= 2008 |pmid= 18158319 |doi= 10.1084/jem.20071311 |pmc=2234378 }}
• {{cite journal |vauthors=Kurima K, Yang Y, Sorber K, Griffith AJ |title=Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. |journal=Genomics |volume=82 |issue= 3 |pages= 300–8 |year= 2003 |pmid= 12906855 |doi=10.1016/S0888-7543(03)00154-X |url=https://zenodo.org/record/1260101 }}
• {{cite journal |vauthors=Rady PL, De Oliveira WR, He Q, etal |title=Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family. |journal=Br. J. Dermatol. |volume=157 |issue= 4 |pages= 831–3 |year= 2007 |pmid= 17711520 |doi= 10.1111/j.1365-2133.2007.08123.x |s2cid=34199539 }}

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{{NLM content}}

{{Metal metabolism}}

{{gene-17-stub}}