TMC6
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.{{cite journal |vauthors=Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M | title = Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis | journal = Nat Genet | volume = 32 | issue = 4 | pages = 579–81 |date=Nov 2002 | pmid = 12426567 | doi = 10.1038/ng1044 | s2cid = 20013445 }}{{cite web | title = Entrez Gene: TMC6 transmembrane channel-like 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11322}} 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.{{cite journal|title=Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses|journal=The Journal of Experimental Medicine|date=2008-01-21|first=M|last=Lazarczyk|author2=C Pons |author3=JA Mendoza |author4=P Cassonnet |author5=Y Jacob |author6=M Favre |volume=205|issue=1|pages=35–42|pmid=18158319 |doi=10.1084/jem.20071311|pmc=2234378 }}
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis, 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.
References
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Further reading
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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=Zuo YG, Ma D, Zhang Y, etal |title=Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. |journal=J. Dermatol. Sci. |volume=44 |issue= 3 |pages= 153–9 |year= 2007 |pmid= 17008061 |doi= 10.1016/j.jdermsci.2006.08.013 }}
- {{cite journal |vauthors=Donfack J, Buchinsky FJ, Derkay CS, etal |title=Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. |journal=Int. J. Pediatr. Otorhinolaryngol. |volume=70 |issue= 7 |pages= 1235–40 |year= 2006 |pmid= 16487602 |doi= 10.1016/j.ijporl.2006.01.001 }}
- {{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=Tate G, Suzuki T, Kishimoto K, Mitsuya T |title=Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. |journal=J. Hum. Genet. |volume=49 |issue= 4 |pages= 223–5 |year= 2004 |pmid= 15042430 |doi= 10.1007/s10038-004-0135-6 |doi-access= free }}
- {{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=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= 2004 |pmid= 12906855 |doi=10.1016/S0888-7543(03)00154-X |url=https://zenodo.org/record/1260101 }}
- {{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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Ramoz N, Taïeb A, Rueda LA, etal |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 |doi-access= free }}
- {{cite journal |vauthors=Ramoz N, Rueda LA, Bouadjar B, etal |title=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. |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 259–63 |year= 1999 |pmid= 10084299 |doi= 10.1046/j.1523-1747.1999.00536.x |doi-access= free }}
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{{Metal metabolism}}
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