FANCD2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene.[1][2][3][4] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2 (this gene), FANCE, FANCF, FANCG, and FANCL.
Function
Fanconi anemia is a genetically homozygous recessive disorder characterized by chromosomal instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 and BRCA2) involved in homology-directed DNA repair. This monoubiquitination is required for interaction with the nuclease FAN1. Alternative splicing results in two transcript variants encoding different isoforms.[4]
Clinical significance
Tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism.[3]
Interactions
FANCD2 has been shown to interact with:
- FANCI[5][6]
- Ataxia telangiectasia mutated,[7][8]
- BARD1,[9]
- BRCA1.[8][9]
- BRCA2,[10][11][12]
- FANCE,[11][13][14]
- HTATIP,[12] and
- MEN1.[15]
References
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