TMC8

protein
Name = transmembrane channel-like 8
caption =


width =
HGNCid = 20474
Symbol = TMC8
AltSymbols = EVER2
EntrezGene = 147138
OMIM = 605829
RefSeq = NM_152468
UniProt = Q8IU68
PDB =
ECnumber =
Chromosome = 17
Arm = q
Band = 25.3
LocusSupplementaryData =

Transmembrane channel-like 8 is a protein which in humans is encoded by the "TMC8" gene.cite journal | author = 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 = Nature genetics | volume = 32 | issue = 4 | pages = 579–81 | year = 2002 | month = December | pmid = 12426567 | doi = 10.1038/ng1044 | url = | issn = ] cite web | title = Entrez Gene: TMC8 transmembrane channel-like 8| url =http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=147138 | accessdate =]

Function

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.

Clinical significance

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.

References