PNKP
Template:Short description Template:Infobox gene 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
PNKP has been shown to interact with DNA polymerase beta[5] and XRCC1.[5][6]
Role in neurologic disease
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
<templatestyles src="Reflist/styles.css" />
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ a b Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
Script error: No such module "Check for unknown parameters".
Further reading
<templatestyles src="Refbegin/styles.css" />
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
Script error: No such module "Navbox".