TMC8 explained

Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.[1] [2]

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.[2]

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.[2]

Further reading

Notes and References

  1. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M . Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis . Nature Genetics . 32 . 4 . 579–81 . December 2002 . 12426567 . 10.1038/ng1044 . 20013445 .
  2. Web site: Entrez Gene: TMC8 transmembrane channel-like 8.