Gene Symbol | XPC |
Entrez Gene ID | 7508 |
Full Name | XPC complex subunit, DNA damage recognition and repair factor |
Synonyms | RAD4,XP3,XPCC,p125 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Xeroderma pigmentosum, group C, 278720 (3) |