TMC8 Antibody – Rabbit Polyclonal

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]

TMC8: an endoplasmic reticulum multipass membrane protein. Defects in TMC8 cause Lutz-Lewandowsky epidermodysplasia verruciformis [MIM:226400], a rare skin disease characterized by increased susceptibility to infection by papillomaviruses with an accompanying high risk of skin carcinoma. Three splice-variant isoforms of the human protein have been described.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: Golgi apparatus; extracellular space; endoplasmic reticulum membrane; nuclear membrane; endoplasmic reticulum; cytoplasm; integral to membrane

Molecular Function: protein binding; receptor binding

Biological Process: negative regulation of protein oligomerization; zinc ion homeostasis; ion transport; regulation of cell growth; negative regulation of protein binding

Disease: Epidermodysplasia Verruciformis