TMC8, EVER2, EVIN2, Transmembrane channel-like protein 8, Epidermodysplasia verruciformis protein 2
Epidermodysplasia verruciformis (EV) is 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. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008],disease:Defects in TMC8 are a cause of epidermodysplasia verruciformis (EV) [MIM:226400]. It is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.,online information:TMC8 mutation db,similarity:Belongs to the TMC family.,tissue specificity:Expressed in placenta, prostate and testis.,
