Overview

Description

  • NatureSynthetic

Specifications

Our Abpromise guarantee covers the use of ab38741 in the following tested applications.

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

  • FormLiquid
  • 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.

    Information available upon request.

General info

  • Alternative names
    • 4732427B05
    • BC066140
    • DKFZp667I166
    • DKFZp686E1054
    • FANCN
    • FANCN GENE
    • FLJ21816
    • OTTMUSP00000025884
    • PALB2
    • PALB2_HUMAN
    • partner and localizer of BRCA2
    • PNCA3
    • RGD1304759
    see all
  • FunctionPlays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures.
  • Involvement in diseaseNote=Genetic variations in PALB2 are associated with breast cancer susceptibility.
    Defects in PALB2 are the cause of Fanconi anemia complementation group N (FANCN) [MIM:610832]. It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
    Defects in PALB2 are the cause of pancreatic cancer type 3 (PNCA3) [MIM:613348]. It is a malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
  • Sequence similaritiesContains 7 WD repeats.
  • DomainInteraction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localizationNucleus. Colocalizes with BRCA2 in nuclear foci.
  • Information by UniProt

References for Human PALB2 peptide (ab38741)

ab38741 has not yet been referenced specifically in any publications.

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