LongevityMap Gene
Gene details
- HGNC symbol
- XPC
- Aliases
- XP3; RAD4; XPCC; p125
- Common name
- XPC complex subunit, DNA damage recognition and repair factor
- Description
- 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]
- Cytogenetic Location
- 3p25.1
- UCSC Genome Browser
- View 3p25.1 on the UCSC genome browser
- OMIM
- 613208
- Ensembl
- ENSG00000154767
- UniProt/Swiss-Prot
- X5DRB1_HUMAN
- Entrez Gene
- 7508
- UniGene
- 475538
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- xpc-1
- Danio rerio
- xpc
- Drosophila melanogaster
- mus210
- Mus musculus
- Xpc
- Rattus norvegicus
- Xpc
- Saccharomyces cerevisiae
- RAD4
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as RAD4
- CellAge
- This gene is present as XPC
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs3731108
- Reference