XPC Antibody – Mouse Monoclonal

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

XPC: a probable nuclear protein involved in DNA excision repair. May play a part in DNA damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes. Defects in XPC are a cause of xeroderma pigmentosum complementation group C.

Protein type: DNA repair, damage

Chromosomal Location of Human Ortholog: 3p25.1

Cellular Component: nucleoplasm; cytoplasm; plasma membrane; nucleolus; nucleus

Molecular Function: protein binding; damaged DNA binding; bubble DNA binding; single-stranded DNA binding; loop DNA binding

Biological Process: nucleotide-excision repair, DNA damage recognition; response to drug; nucleotide-excision repair; intra-S DNA damage checkpoint; nucleotide-excision repair, DNA damage removal; DNA repair; response to UV-B

Disease: Xeroderma Pigmentosum, Complementation Group C