Concept information
Preferred term
Fanconi Anemia Complementation Group N Protein
Type
-
Topical Descriptor
Broader concept
Entry terms
- FANCN Protein
- PALB2 Protein
- Partner and Localizer of BRCA2 Protein
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.
History note
- 2018
In other languages
-
Finnish
-
Fanconin anemiaan liittyvä komplementaatioryhmäproteiini N
-
Fanconin anemian komplementaatioryhmäproteiini N
-
komplementaatioryhmäproteiini N Fanconin anemiassa
URI
http://www.yso.fi/onto/mesh/D000076164
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