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GENATLAS PHENOTYPE
last update : 17-01-2009
Symbol XPC
Location 3p25.1
Name xeroderma pigmentosum, complementation group C
Corresponding gene XPC
Other symbol(s) XPCC
Main clinical features hypersensitivity to ultraviolet light.; the cells of xeroderma pigmentosum patients are defective in nucleotide excision repair, limiting their capacity to eliminate ultraviolet-induced DNA damage, and resulting in a strong predisposition to develop skin cancers
Genetic determination
Function/system disorder dermatology
Type disease
Remark(s)
  • associated TP53 and CDKN2A mutations in skin and internal tumors (glioma)
  • genome overall nucleotide excision repair (p125), defect compromizing the global genome repair pathway, with proficient transcription-coupled repair (TCR) of active genes
  • tailored endonucleases raises new possibilities for gene therapy in patients with xeroderma pigmentosum and other monogenic diseases, such as haematological diseases