XPC Proteins

Protein Information

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.

Synonyms

DNA repair protein complementing XP-C cells; DNA repair protein complementing XP-C cells homolog; mutant xeroderma pigmentosum group C; NER; p125; RAD4; Xeroderma pigmentosum group C-complementing protein; Xeroderma pigmentosum group C-complementing protein homolog; xeroderma pigmentosum, complementation group C; XP3; XPC; XPC complex subunit, DNA damage recognition and repair factor; XPCC