Gene: XPC

Alternate names for this Gene: RAD4|XP3|XPCC|p125

Gene Summary: The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: XPC complex subunit, DNA damage recognition and repair factor

Type of Gene: protein-coding

Gene: LOC107986063

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rs1553604559 in XPC;LOC107986063 gene and XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PMID 26278556 2015 Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

PMID 20054342 2010 A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.