[5][6] 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.
[6] 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.
[6] This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article on a gene on human chromosome 17 is a stub.