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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.
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Protein Aliases: DNA repair protein complementing XP-C cells; mutant xeroderma pigmentosum group C; NER; p125; Xeroderma pigmentosum group C-complementing protein; xeroderma pigmentosum, complementation group C
Gene Aliases: p125; RAD4; XP3; XPC; XPCC
UniProt ID: (Human) Q01831
Entrez Gene ID: (Human) 7508
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