FANCD2, also named as FACD and FACD2, is required for maintenance of chromosomal stability. FANCD2 may also be involved in B-cell immunoglobulin isotype switching. Defects in FANCD2 are a cause of Fanconi anemia (FA) which is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies.
