PNKP, Official Symbol PNKPprovided by HGNC Official Full Name polynucleotide kinase 3'-phosphataseprovided by HGNC Primary source HGNC:HGNC:9154 See related Ensembl:ENSG00000039650 MIM:605610; AllianceGenome:HGNC:9154 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PNK; AOA4; MCSZ; CMT2B2; EIEE10 Summary 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] Expression Ubiquitous expression in spleen (RPKM 18.2), adrenal (RPKM 13.4) and 25 other tissues See more Orthologs mouse all