Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 20-02-2010
Symbol XPE
Location 11p11.2
Name xeroderma pigmentosum, complementation group E
Corresponding gene DDB2
Other symbol(s) XP5
Main clinical features
  • a defect in the damage specific DNA binding protein DDB2
  • skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer, including squamous and basal cell carcinomas and melanomas
  • Genetic determination
    Function/system disorder dermatology
    Type disease
    Gene product
    Name damage specific DNA binding protein 2