Species Human Entrez 147138 | Human Mouse Ensembl ENSG00000167895 | |
Aliases TMC8, EV2, EVER2, EVIN2, transmembrane channel like 8 External IDs MGI: 2669037 HomoloGene: 45126 GeneCards: TMC8 | ||
Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.
Contents
Function
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.
Clinical significance
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.
References
TMC8 Wikipedia(Text) CC BY-SA