The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Blocking - Blocking peptide for Anti-PNK antibody (ab3817)
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Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Bifunctional polynucleotide phosphatase/kinase
DNA 5' kinase/3' phosphatase
Homo sapiens polynucleotide kinase 3' phosphatase (PNKP)
PNKP DNA kinase
Polynucleotide 5' hydroxyl kinase
Polynucleotide kinase 3 prime phosphatase
Polynucleotide kinase 3' phosphatase
功能Catalyzes the phosphorylation of DNA at 5'-hydroxyl termini and can dephosphorylate its 3'-phosphate termini. Plays an important function in DNA repair following ionizing radiation or oxidative damage.
组织特异性Expressed in many tissues with highest expression in spleen and testis, and lowest expression in small intestine (PubMed:10446192). Expressed in higher amount in pancreas, heart and kidney and at lower levels in brain, lung and liver (PubMed:10446193).
疾病相关Defects in PNKP are the cause of microcephaly seizures and development delay (MCSZ) [MIM:613402]. It is characterized by microcephaly, infantile-onset seizures, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly.
序列相似性In the N-terminal section; belongs to the DNA 3' phosphatase family.
翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.