TMC6 Gene

The TMC6 gene (TMC6 stands for "Transmembrane Channel Like 6", is also called EVER1gene) is a protein coding gene located on chromosome 17q25.3. The TMC6 gene encodes a transmembrane channel like protein with 10 transmembrane domains and 2 leucine zipper motifs. The TMC6 protein is localized in the endoplasmic reticulum, where it forms a transmembrane channel.

Diseases associated with TMC6 include epidermodysplasia verruciformis. Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomavirus (HPV) and a high rate of progression to squamous cell carcinoma (Kim T et al 2010) on sun-exposed skin.

1. Burger B et al (2014) Epidermodysplasia verruciformis. Curr Probl Dermatol 45:123-131.
2. Kim T et al (2010) Development of aggressive squamous cell carcinoma in epidermodysplasia verruciformis associated with human papillomavirus type 22b. Dermatology 220:326-328.
3. López-Ramírez S et al (2020) Next-generation sequencing identifies a homozygous nonsense p.Tyr370* mutation of the TMC6 gene in a Mexican pedigree with epidermodysplasia verruciformis. Rev Invest Clin doi: 10.24875/RIC.20000415.
4. Wu CJ et al (2020) Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. J Biol Chem 295:16086-16099.