DNA repair protein required for FANCD2 ubiquitination. Defects in FANCB are the cause of Fanconi anemia complementation group B (FANCB). It is 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. Note: This description may include information from UniProtKB.
Alt. Names/Synonyms: FA2; FAAP90; FAAP95; FAB; FACB; FANCB; Fanconi anemia group B protein; Fanconi anemia, complementation group B; Fanconi anemia-associated polypeptide of 95 kDa; Protein FACB; type 2 Fanconi pancytopenia