FANCB

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

Fanconi Anemia Complementation Group B

DNA repair protein required for FANCD2 ubiquitination.

Interstrand cross-link repair Source: InterPro
Negative regulation of double-strand break repair via homologous recombination Source: GO_Central
Positive regulation of double-strand break repair via homologous recombination Source: GO_Central
Replication-born double-strand break repair via sister chromatid exchange Source: GO_Central

Nucleus

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.