xeroderma pigmentosum complementation group A

xeroderma pigmentosum complementation group A

A rare autosomal recessive disorder (OMIM:278700) characterised by UV light sensitivity, a markedly increased risk of UV light-induced malignancy and, in some cases, neurologic disease.

Molecular pathology
Caused by defects of XPA, which encodes a protein of the nucleotide excision repair (NER) complex responsible for repair of UV light- and chemical-carcinogen-induced DNA adducts.
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