TMC6

TMC6 is a gene that in humans is encoded by the TMC6 protein. It is also known as EVER1 and is associated with the condition Epidermodysplasia verruciformis.

Function

The TMC6 gene provides instructions for making a protein that is found in the outer layer of the skin (the epidermis). Although the exact function of this protein is unknown, it likely plays a role in the growth and development of skin cells. The TMC6 protein is also thought to be involved in the body's immune response to certain types of human papillomavirus (HPV).

Clinical significance

Mutations in the TMC6 gene have been associated with Epidermodysplasia verruciformis, a rare skin disorder. This condition is characterized by an increased susceptibility to specific types of HPV, including those that are a common cause of skin warts. People with Epidermodysplasia verruciformis are also at a high risk of developing non-melanoma skin cancer.

See also

• Epidermodysplasia verruciformis
• Human papillomavirus
• Non-melanoma skin cancer

References

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External links

• GeneReviews/NCBI/NIH/UW entry on Epidermodysplasia Verruciformis
• OMIM entries on Epidermodysplasia Verruciformis

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