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

Danio rerio
xpc
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

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