Biology:TMC6
From HandWiki
 Generic protein structure example |
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.
References
- ↑ "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet 32 (4): 579–81. Nov 2002. doi:10.1038/ng1044. PMID 12426567.
- ↑ "Entrez Gene: TMC6 transmembrane channel-like 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11322.
- ↑ 3.0 3.1 Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (2008-01-21). "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 205 (1): 35–42. doi:10.1084/jem.20071311. PMID 18158319.
Further reading
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "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. doi:10.1016/j.jdermsci.2006.08.013. PMID 17008061.
- "Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.". Int. J. Pediatr. Otorhinolaryngol. 70 (7): 1235–40. 2006. doi:10.1016/j.ijporl.2006.01.001. PMID 16487602.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.". J. Hum. Genet. 49 (4): 223–5. 2004. doi:10.1007/s10038-004-0135-6. PMID 15042430.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.". Genomics 82 (3): 300–8. 2004. doi:10.1016/S0888-7543(03)00154-X. PMID 12906855. https://zenodo.org/record/1260101.
- "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins.". BMC Genomics 4 (1): 24. 2003. doi:10.1186/1471-2164-4-24. PMID 12812529.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. doi:10.1046/j.1523-1747.2000.00996.x. PMID 10844558.
- "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. doi:10.1046/j.1523-1747.1999.00536.x. PMID 10084299.
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