PNKP
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Bifunctional polynucleotide phosphatase/kinase is an enzyme that in humans is encoded by the PNKP gene.[1][2][3] A detailed structural study of the crystallized mouse protein examined both the 5´-polynucleotide kinase and 3’-polynucleotide phosphatase activities.[4] Additional features of the peptide sequence include a forkhead association (FHA) domain, ATP binding site and nuclear and mitochondrial localization sequences.
Interactions
[edit | edit source]PNKP has been shown to interact with DNA polymerase beta[5] and XRCC1.[5][6]
Role in neurologic disease
[edit | edit source]The human gene encoding PNKP was observed to be mutated in patients[7][8][9][10] with microcephaly, seizures and defects in DNA repair. A type of recessive ataxia is also associated with PNKP mutations.[11] There are also newly characterized pathological variants of PNKP.[12] Model organisms such as mice and Drosophila have been used to generate further insights.[13][14]
References
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Further reading
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