TMC8
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Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.[1][2]
Function
[edit | edit source]The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs.[2]
Clinical significance
[edit | edit source]Mutations in the TMC8 gene are associated with 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.[2]
References
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Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
