PNKP
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Bifunctional polynucleotide phosphatase/kinase is an enzyme that in humans is encoded by the PNKP gene.[5][6][7] A detailed structural study of the crystallized mouse protein examined both the 5´-polynucleotide kinase and 3’-polynucleotide phosphatase activities.[8] Additional features of the peptide sequence include a forkhead association (FHA) domain, ATP binding site and nuclear and mitochondrial localization sequences.
Interactions
Role in neurologic disease
The human gene encoding PNKP was observed to be mutated in patients[11][12][13][14] with microcephaly, seizures and defects in DNA repair. A type of recessive ataxia is also associated with PNKP mutations.[15] There are also newly characterized pathological variants of PNKP.[16] Model organisms such as mice and Drosophila have been used to generate further insights.[17][18]
