partner & localizer of BRCA2 ( PALB2, FANCN)

Function

• essential partner of BRCA2
• promotes localization & stability of BRCA2
• also enables recombinational repair & checkpoint functions of BRCA2
• promotes stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (putative)
• phosphorylated upon DNA damage, probably by ATM or ATR

Compartment

• nucleus
• colocalizes with BRCA2 in nuclear foci

Pathology

• variations in PALB2 are associated with breast cancer susceptibility
• defects in PALB2 are the cause of Fanconi anemia complementation group N

Laboratory

• PALB2 gene mutation

More general terms

• WD repeat protein family
• phosphoprotein

Additional terms

• breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)

Database

• OMIM: https://mirror.omim.org/entry/227650
• UniProt: http://www.uniprot.org/uniprot/Q86YC2.html