St Vincents Institute of Medical Research, 9 Princes St, Fitzroy VIC 3065, Australia; svantwest@svi.edu.au; adeans@svi.edu.au
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 like mitomycin C (MMC) (Kennedy & DAndrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter & Rosenberg, 2013).
NCBI: 2187 MIM: 300515 HGNC: 3583 Ensembl: ENSG00000181544
dbSNP: 2187 ClinVar: 2187 TCGA: ENSG00000181544 COSMIC: FANCB
Sylvie van Twest ; Andrew Deans
FANCB (FA complementation group B)
Atlas Genet Cytogenet Oncol Haematol. 2019-02-01
Online version: http://atlasgeneticsoncology.org/gene/49864/fancb-(fa-complementation-group-b)