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-RA
Mus musculus
Pnkp
Rattus norvegicus
Pnkp
Schizosaccharomyces pombe
pnk1

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