MilliporeSigma™ PNKP, Mouse, Unlabeled, Clone: H101.2,

Description

• Bifunctional polynucleotide phosphatase/kinase (EC 2.7.1.78; EC 3.1.3.32; UniProt Q96T60; also known as DNA 5&prime-kinase/3&prime-phosphatase, Polynucleotide kinase-3&prime-phosphatase) is encoded by the PNKP (also known as AOA4, MCSZ) gene (Gene ID 11284) in human
• Polynucleotide kinase/phosphatase (PNKP) is a critical mammalian DNA repair enzyme that converts 3'-phosphate and 5'-hydroxyl at damaged DNA termini to generate 5&prime-phosphate and 3&prime-hydroxyl groups that are required for subsequent processing by DNA ligases and polymerases
• PNKP dephosphorylates the 3'-phosphate termini of single nucleotide gap DNAs produced by the endonuclease VIII-like DNA glycosylases NEILs prior to gap filling and ligation during base excision repair (BER)
• PNKP is also involved in the the nonhomologous end joining (NHEJ) pathway-mediated double-strand breaks repair by interacting with the NHEJ scaffolding protein XRCC4
• PNKP-knockdown in human cells leads to marked sensitization to spontaneous mutation and increased susceptibility to genotoxic agents
• Small molecules that selectively inhibit PNKP phosphatase activity sensitize human cells to DNA damage and mutations in the PNKP phosphatase domain are associated with the developmental neurological disorder MCSZ (Microcephaly, seizures, and developmental delay).