Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)