Gene Symbol | PNKP |
Entrez Gene ID | 11284 |
Full Name | polynucleotide kinase 3'-phosphatase |
Synonyms | AOA4,EIEE10,MCSZ,PNK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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.[provided by RefSeq, Sep 2010]. |
Disorder MIM: | |
Disorder Html: | Microcephaly, seizures, and developmental delay, 613402 (3); Ataxia-oculomotor apraxia 4, 616267 (3) |