Pnkp - polynucleotide kinase 3'-phosphatase Gene

About Pnkp

Summary

Predicted to enable several functions, including polydeoxyribonucleotide 5'-hydroxyl-kinase activity; polynucleotide 3'-phosphatase activity; and ubiquitin ligase-substrate adaptor activity. Predicted to be involved in several processes, including DNA repair; negative regulation of protein ADP-ribosylation; and positive regulation of DNA metabolic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2B2 and microcephaly, seizures, and developmental delay. Orthologous to human PNKP (polynucleotide kinase 3'-phosphatase). [provided by Alliance of Genome Resources, Apr 2022]