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The official name of this gene is “partner and localizer of BRCA2.”
PALB2 is the gene's official symbol. The PALB2 gene is also known by other names, listed below.
This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]
Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. 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. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. 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. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity.
Breast cancer (BC): A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variations affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk (PubMed:22241545).
Fanconi anemia complementation group N (FANCN): 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. The disease is caused by mutations affecting the gene represented in this entry.
Pancreatic cancer 3 (PNCA3): 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. The disease is caused by mutations affecting the gene represented in this entry.
|114480 (http://omim.org/entry/114480)||BREAST CANCER|
|610832 (http://omim.org/entry/610832)||FANCONI ANEMIA, COMPLEMENTATION GROUP N|
|613348 (http://omim.org/entry/613348)||PANCREATIC CANCER, SUSCEPTIBILITY TO, 3|
|189960 (http://omim.org/entry/189960)||TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA|
|610355 (http://omim.org/entry/610355)||PARTNER AND LOCALIZER OF BRCA2|
Cytogenetic Location: 16p12.2
Molecular Location on chromosome 16: base pairs 23,603,161 to 23,641,356
The PALB2 gene is located on the short (p) arm of chromosome 16 at position 12.2.
More precisely, the PALB2 gene is located from base pair 23,603,161 to base pair 23,641,356 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PALB2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anemia ; bilateral ; bone marrow ; cancer ; carcinoma ; cardiac ; chromosome ; connective tissue ; degradation ; DNA ; DNA repair ; epithelial ; epithelium ; familial ; fistula ; gene ; locus ; neoplasms ; pancreas ; pancreatic ; predisposition ; proteasome ; protein ; renal ; susceptibility ; thrombopenia ; tissue ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.