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xeroderma pigmentosum, complementation group C (XPC)

Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group.
XPC patients may be particularly prone to malignant melanoma.
None showed neurologic abnormalities. DNA repair activity ranged from 10 to 20% of normal.

OTHER NAME(S): XERODERMA PIGMENTOSUM III
XP, GROUP C

ABREVIATION(S):
XPC
XPCC
XP3

TYPE: risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer

Related patway(s): nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: XPC

OMIM: 278720

Last modification date: Aug. 17, 2011