Overview

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      EPRLGRLYCQFSEG
    • Amino acids
      508 to 521

Associated products

Specifications

Our Abpromise guarantee covers the use of ab22956 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking - Blocking peptide for Anti-PNK antibody (ab3817)

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

General Info

  • Alternative names
    • 2''(3'')-polynucleotidase
    • 2'(3')-polynucleotidase
    • Bifunctional polynucleotide phosphatase/kinase
    • DEM 1
    • DEM1
    • DNA 5' kinase/3' phosphatase
    • DNA 5''-kinase/3''-phosphatase
    • EIEE10
    • Homo sapiens polynucleotide kinase 3' phosphatase (PNKP)
    • MCSZ
    • PNK 1
    • PNK1
    • Pnkp
    • PNKP DNA kinase
    • PNKP_HUMAN
    • Polynucleotide 3'-phosphatase
    • Polynucleotide 5' hydroxyl kinase
    • Polynucleotide 5''-hydroxyl-kinase
    • Polynucleotide Kinase
    • Polynucleotide kinase 3 prime phosphatase
    • Polynucleotide kinase 3' phosphatase
    • Polynucleotide kinase-3''-phosphatase
    see all
  • Function
    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.
  • Tissue specificity
    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).
  • Involvement in disease
    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.
  • Sequence similarities
    In the N-terminal section; belongs to the DNA 3' phosphatase family.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization
    Nucleus.
  • Information by UniProt

References

ab22956 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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