XPA, DNA Damage Recognition and Repair Factor

Alternative Names

  • XPA
  • XPA Gene
  • XPA Complementing Gene
  • XPAC
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OMIM Number

611153

NCBI Gene ID

7507

Uniprot ID

P23025

Length

43,006 bases

No. of Exons

9

No. of isoforms

1

Protein Name

DNA repair protein complementing XP-A cells

Molecular Mass

31368 Da

Amino Acid Count

273

Genomic Location

chr9:97,654,397-97,697,402

Gene Map Locus
9q22.33

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000380.3:c.323G>AUnited Arab EmiratesNC_000009.12:g.97689600C>TLikely Pathogenic, Uncertain SignificanceLikely PathogenicXeroderma Pigmentosum, Complementation Group ANG_011642.1:g.12810G>A; NM_000380.3:c.323G>A; NP_000371.1:p.Cys108Tyr104894131430367
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