TMC6 — Mediated Wiki

{{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.<ref name="pmid12426567">{{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 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TMC6 transmembrane channel-like 6| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=11322}}</ref> ''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.<ref name="EVER HPV">{{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 }}</ref>

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,<ref name="EVER HPV"/> 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== {{reflist}}

==Further reading== {{refbegin | 2}} *{{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 }} {{refend}}