Species: Hu
Applications: WB
Host: Goat Polyclonal
Species: Hu
Applications: WB, ICC/IF, IHC
Host: Mouse Monoclonal
Species: Hu, Mu, Rt
Applications: ICC/IF
Host: Rabbit Polyclonal
Species: Hu
Applications: AC
Description
Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by a genetic predisposition to sunlight-induced skin cancer due to deficiencies in the DNA repair enzymes. The most frequent mutations are found in the XP genes of group A through G and group V, which encode nucleotide excision repair proteins. The XPA gene encodes a 31 kDa zinc metalloprotein that preferentially binds to DNA damaged by UV radiation and chemical carcinogens and is required for the incision step during nucleotide excision repair. The XPB and XPD genes encode DNA helicases involved in several DNA metabolic pathways, including DNA repair and transcription, and the XPG gene product is an endonuclease that cuts on the 3' side of a DNA lesion during nucleotide excision repair. Molecular defects in the XP variant (XPV) group maintain normal excision repair, yet they result in a substantial reduction in the ability to synthesize intact daughter DNA strands during DNA replication following DNA damage.
Bioinformatics
| Entrez |
Human
|
| Product By Gene ID |
7507 |
| Alternate Names |
- DNA repair protein complementing XP-A cells
- excision repair-controlling
- Xeroderma pigmentosum group A-complementing protein
- xeroderma pigmentosum, complementation group A
- XP1
- XPA
- XPACXP1
|
