FANCB

Description

The FANCB (FA complementation group B) is a protein-coding gene located on chromosome X.

Fanconi anemia group B protein is a protein encoded by the FANCB gene in humans. It is part of the Fanconi anemia complementation group (FANC), which includes several proteins involved in DNA repair. Fanconi anemia is a genetic disorder characterized by DNA instability, hypersensitivity to DNA crosslinking agents, and defective DNA repair. The FANC proteins assemble into a complex, and FANCB is responsible for the group B complementation. FANCB is the only gene known to cause X-linked Fanconi Anemia, and mutations are highly associated with the development of VACTERL-H birth defects. Mutations in FANCB can lead to earlier onset of bone marrow failure and more severe congenital abnormalities.

FANCB is also known as FA2, FAAP90, FAAP95, FAB, FACB.

Associated Diseases

• VACTERL association, X-linked
• Fanconi anemia
• Fanconi anemia, complementation group B
• VACTERL with hydrocephalus