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pnkp

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Official Full Name
polynucleotide kinase 3-phosphatase
Background
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.
Synonyms
PNKP; polynucleotide kinase 3-phosphatase; bifunctional polynucleotide phosphatase/kinase; PNK; 2(3)-polynucleotidase; DEM 1; DEM1; DNA 5 kinase/3 phosphatase; DNA 5-kinase/3-phosphatase; PNK 1; PNK1; PNKP_HUMAN; Polynucleotide 5 hydroxyl kinase; Polynucleotide 5-hydroxyl-kinase; Polynucleotide kinase 3 prime phosphatase; Polynucleotide kinase 3 phosphatase; Polynucleotide kinase 3-prime-phosphatase; Polynucleotide Kinase; Polynucleotide kinase-3-phosphatase; Homo sapiens polynucleotide kinase 3-phosphatase (PNKP); MCSZ; EIEE10; wu:fe48d04; zgc:153084; fe48d04