PALB2 peptide (ab38741)
- DKFZp686E1054FANCNFANCN GENEFLJ21816OTTMUSP00000025884PALB2PALB2_HUMANpartner and localizer of BRCA2PNCA3RGD1304759
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.
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.
References for PALB2 peptide (ab38741)
ab38741 has not yet been referenced specifically in any publications.