FANCB (FA complementation group B)
Author(s) -
Sylvie van Twest,
Andrew J. Deans
Publication year - 2019
Publication title -
atlas of genetics and cytogenetics in oncology and haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.121
H-Index - 2
ISSN - 1768-3262
DOI - 10.4267/2042/70644
Subject(s) - genetics , group (periodic table) , complementation , biology , gene , chemistry , phenotype , organic chemistry
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 D'Andrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter Rosenberg, 2013).
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom