- Concept UI
- M000632389
- Registry Numbers
- 0
- Scope Note
- A Fanconi anemia complementation group protein that contains an N-terminal DNA-binding region and seven, C-terminal, WD REPEATS. It is an essential factor in HOMOLOGOUS RECOMBINATION DNA REPAIR through its interactions with BRCA2 PROTEIN; RAD51 RECOMBINASE; and BRCA1 PROTEIN. It functions as a molecular scaffold to localize and stabilize these proteins at homologous recombination sites. Mutations in the PALB2 gene are associated with FANCONI ANEMIA complementation group N; type 3 PANCREATIC NEOPLASMS; and susceptibility to BREAST CANCER.
- Terms
-
Fanconi Anemia Complementation Group N Protein
Preferred Term
Term UI
T000925674
Date05/30/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
-
Partner and Localizer of BRCA2 Protein
Term UI
T000925676
Date05/30/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)
-
FANCN Protein
Term UI
T000925675
Date05/30/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)
-
PALB2 Protein
Term UI
T000925677
Date05/30/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)