Disease:Defects in XPA are a cause of xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]; also known as xeroderma pigmentosum type 1 (XP1) . XP-A is a rare human autosomal recessive disease characterized by solar sensitivity , high predisposition for developing cancers on areas exposed to sunlight and , in some cases , neurological abnormalities. Group A patients show the most severe skin symptoms and progressive neurological disorders. ,Function:Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities , depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD) , sites of DNA damage after UV irradiation. ,PTM:Phosphorylated upon DNA damage , probably by ATM or ATR. ,similarity:Belongs to the XPA family. ,subunit:Interacts with XAB1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. ,tissue specificity:Expressed in various cell lines and in skin fibroblasts. ,
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