XPA (Phospho-Ser196) Rabbit Polyclonal Antibody

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.