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
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