LongevityMap Gene

Gene details

HGNC symbol
DCLRE1C 
Aliases
SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C 
Common name
DNA cross-link repair 1C 
Description
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
OMIM
605988
Ensembl
ENSG00000152457
UniProt/Swiss-Prot
B3KMX5_HUMAN
Entrez Gene
64421
UniGene
655932
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
dclre1b
Mus musculus
Dclre1c
Rattus norvegicus
Dclre1b

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
rs7906952
Reference