Aliases for PNKP Gene
External Ids for PNKP Gene
Previous GeneCards Identifiers for PNKP Gene
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]
GeneCards Summary for PNKP Gene
PNKP (Polynucleotide Kinase 3'-Phosphatase) is a Protein Coding gene. Diseases associated with PNKP include Microcephaly, Seizures, And Developmental Delay and Ataxia-Oculomotor Apraxia 4. Among its related pathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. GO annotations related to this gene include double-stranded DNA binding and endonuclease activity. An important paralog of this gene is APTX.
UniProtKB/Swiss-Prot for PNKP Gene
Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3-phosphates from, or by phosphorylating 5-hydroxyl groups on, the ribose sugar of the DNA backbone.