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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Function:
Defects in TMC6 are a cause of epidermodysplasia verruciformis, 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. TMC6 is expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes. There are four named isoforms.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein
Tissue Specificity:
Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes.
DISEASE:
Epidermodysplasia verruciformis (EV) [MIM:221280]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the TMC family.
SWISS:
Q7Z403
Gene ID:
11322
Database links:
Entrez Gene: 11322 Human
Entrez Gene: 217353 Mouse
Omim: 605828 Human
SwissProt: Q7Z403 Human
SwissProt: Q7TN60 Mouse
Unigene: 632227 Human
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