Anti-PNKP Antibody Picoband® Fluoro488 Conjugated

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.

PNKP; Bifunctional polynucleotide phosphatase/kinase; DNA 5'-kinase/3'-phosphatase; Polynucleotide kinase-3'-phosphatase [Includes: Polynucleotide 3'-phosphatase; EC 3.1.3.32; 2' (3'-polynucleotidase; Polynucleotide 5'-hydroxyl-kinase; EC 2.7.1.78]

1. Bras, J., Alonso, I., Barbot, C., Costa, M. M., Darwent, L., Orme, T., Sequeiros, J., Hardy, J., Coutinho, P., Guerreiro, R. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am. J. Hum. Genet. 96: 474-479, 2015. 2. Jilani, A., Ramotar, D., Slack, C., Ong, C., Yang, X. M., Scherer, S. W., Lasko, D. D. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3-prime-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J. Biol. Chem. 274: 24176-24186, 1999. 3. Karimi-Busheri, F., Daly, G., Robins, P., Canas, B., Pappin, D. J. C., Sgouros, J., Miller, G. G., Fakhrai, H., Davis, E. M., Le Beau, M. M., Weinfeld, M. Molecular characterization of a human DNA kinase. J. Biol. Chem. 274: 24187-24194, 1999.