LongevityMap Gene
Gene details
- HGNC symbol
- PNKP
- Aliases
- PNK; AOA4; MCSZ; EIEE10
- Common name
- polynucleotide kinase 3'-phosphatase
- Description
- This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
- Cytogenetic Location
- 19q13.33
- UCSC Genome Browser
- View 19q13.33 on the UCSC genome browser
- OMIM
- 605610
- Ensembl
- ENSG00000039650
- UniProt/Swiss-Prot
- PNKP_HUMAN
- Entrez Gene
- 11284
- UniGene
- 78016
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- F21D5.5
- Danio rerio
- pnkp
- Drosophila melanogaster
- CG9601
- Mus musculus
- Pnkp
- Rattus norvegicus
- Pnkp
- Saccharomyces cerevisiae
- HNT3
- Schizosaccharomyces pombe
- pnk1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as HNT3
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
- rs2257103
- Reference