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Protein-coding gene in the species Homo sapiens
Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene .[ 5] [ 6]
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 .[ 6]
Clinical significance [ edit ] 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.[ 6]
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . S2CID 7827573 . Ramoz N, Taïeb A, Rueda LA, et al. (2000). "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. doi :10.1046/j.1523-1747.2000.00996.x PMID 10844558 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins" . BMC Genomics . 4 (1): 24. doi :10.1186/1471-2164-4-24 PMC 165604 PMID 12812529 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Patel AS, Karagas MR, Pawlita M, et al. (2008). "Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study" . Int. J. Cancer . 122 (10): 2377–9. doi :10.1002/ijc.23377 . PMC 2705140 PMID 18224692 . Zavattaro E, Azzimonti B, Mondini M, et al. (2008). "Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations" . J. Invest. Dermatol . 128 (3): 732–5. doi :10.1038/sj.jid.5701124 PMID 17960179 . Lazarczyk M, Pons C, Mendoza JA, et al. (2008). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses" . J. Exp. Med . 205 (1): 35–42. doi :10.1084/jem.20071311 . PMC 2234378 PMID 18158319 . Kurima K, Yang Y, Sorber K, Griffith AJ (2003). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis" . Genomics . 82 (3): 300–8. doi :10.1016/S0888-7543(03)00154-X . PMID 12906855 . Rady PL, De Oliveira WR, He Q, et al. (2007). "Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family". Br. J. Dermatol . 157 (4): 831–3. doi :10.1111/j.1365-2133.2007.08123.x . PMID 17711520 . S2CID 34199539 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
