Fanconi anemia group B protein
Function
DNA repair protein required for FANCD2 ubiquitination.
Involvement in disease
Fanconi anemia complementation group B
FANCB
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. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
Fanconi anemia group B protein, Protein FACB, Fanconi anemia-associated polypeptide of 95 kDa, FAAP95, FANCB