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.
Expressed in various cell lines and in skin fibroblasts.
Involvement in 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.
Belongs to the XPA family.
Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated by HERC2 leading to degradation by the proteasome.
Immunofluorescence analysis of GFP-RNF168 transgenic U2OS cell using ab180618 Green: GFP-RNF168 fusion protein expression for DNA damage marker. Blue: DAPI for nuclear staining. RNF168(GFP) can be used to mark cells damaged by UV-A laser for they always gather around DNA damage region.