TMC8

TMC8 (also known as Ever1, Ever2, or ATPase family gene 3-like 2) is a gene that in humans is encoded by the TMC8 gene. It is located on chromosome 17q25.3 and is closely related to the TMC6 gene. Both genes are involved in the control of the human papillomavirus (HPV) infection and are associated with the rare autosomal recessive genetic disorder Epidermodysplasia Verruciformis (EV).

Function

The TMC8 gene provides instructions for making a protein that is found in the outer membrane of cells and is involved in the immune response to infections with certain types of HPV. The protein produced by the TMC8 gene helps control the growth of these viruses within the skin.

Clinical significance

Mutations in the TMC8 gene can lead to the development of EV, a condition characterized by an increased susceptibility to specific types of HPV. This can result in the growth of wart-like skin lesions and an increased risk of skin cancer.

See also

• TMC6
• Epidermodysplasia Verruciformis
• Human papillomavirus

References

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External links

• NCBI Gene
• Genetics Home Reference

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