EVER2: Proteins and Enzymes

SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.; TISSUE SPECIFICITY: Expressed in placenta, prostate and testis. DISEASE: Defects in TMC8 are a cause of epidermodysplasia verruciformis. 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.