Description
Product Characteristics:
Transmembrane channel-like protein 8 (TMC8), also known as Epidermodysplasia verruciformis protein 2 (EVER2), is a 726 amino acid member of the TMC family of proteins. Localized to the endoplasmic reticulum membrane, TMC8 is thought to form a transmembrane channel-like protein with eight predicted transmembrane domains and three leucine zipper motifs. Mutations in the genes encoding TMC8 and TMC6, another member of the TMC family, have been shown to cause 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. Infection by HPVs lead to persistent wart-like or macular lesions. TMC8 is expressed in placenta, prostate and testis, and three named isoforms exist as a result of alternative splicing events.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: epidermodysplasia verrucormis 2, Epidermodysplasia verrucormis protein 2, EV2, EVIN2, FLJ40668, FLJ43684, MGC102701, MGC40121, TMC8, Transmembrane channel like protein 8, TMC8_HUMAN.
Target Information: 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]