Aliases for XPA Gene
External Ids for XPA Gene
Previous GeneCards Identifiers for XPA Gene
This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]
GeneCards Summary for XPA Gene
XPA (XPA, DNA Damage Recognition And Repair Factor) is a Protein Coding gene. Diseases associated with XPA include Xeroderma Pigmentosum, Complementation Group A and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and damaged DNA binding.
UniProtKB/Swiss-Prot Summary for XPA Gene
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 CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.