FANCB (FA complementation group B)

Sylvie van Twest, Andrew Deans
2019 Atlas of Genetics and Cytogenetics in Oncology and Haematology  
FANCB protein is a component of the Fanconi Anemia (FA) core complex needed for DNA repair. Within the core complex, FANCB forms a protein subcomplex with two other proteins, FAAP100, and an E3 RING ligase FANCL (BL100) to monoubiquitinate FANCD2 and FANCI (ID2), a process that is defective in 95% of all FA patients. FA is a rare, genetic cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy
more » ... d in chemotherapy like mitomycin C (MMC) (Kennedy D' Andrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter Rosenberg, 2013). Identity Other names: FAB, FA2, FACB HGNC (Hugo): FANCB Location : Xp22.2 Location (base pair) FANCB is located on the X chromosome between base pairs 14,690,863 to 14,873,255 at position Xp22.2 on the short arm (p) of the X chromosome. DNA/RNA Description FANCB has 10 exons, and the translation start site is in exon 3 (Meetei et al., 2004).
doi:10.4267/2042/70644 fatcat:7ocrfrmqwnhppphtmkikac2na4