دورية أكاديمية
FANCB (FA complementation group B)
العنوان: | FANCB (FA complementation group B) |
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المؤلفون: | van Twest, Sylvie, Deans, Andrew |
المساهمون: | St Vincent's Institute of Medical Research, 9 Princes St, Fitzroy VIC 3065, Australia |
بيانات النشر: | ARMGHM - Atlas Génétique des Cancers |
سنة النشر: | 2020 |
المجموعة: | I-Revues (E-Journals, INIST-CNRS) |
مصطلحات موضوعية: | FANCB, Fanconi Anemia, Ubiquitination, VACTERL-H, Cancer pre-disposition, Chromosome X, Genes Section, Amino Acid Sequence, Chromatography, High Pressure Liquid, DNA-Binding Proteins/chemistry/genetics/metabolism, Dimerization, Fanconi Anemia Complementation Group D2 Protein/chemistry/genetics/*metabolism, Fanconi Anemia Complementation Group Proteins/chemistry/genetics/*metabolism, Humans, Mass Spectrometry, Microscopy, Electron, Protein Multimerization, Protein Structure, Tertiary, Substrate Specificity, Cell Line, DNA/genetics/metabolism, DNA-Binding Proteins/metabolism, Fanconi Anemia/genetics/*metabolism, Fanconi Anemia Complementation Group A Protein/metabolism, Fanconi Anemia Complementation Group C Protein/metabolism, Fanconi Anemia Complementation Group D2 Protein/genetics/*metabolism, Fanconi Anemia Complementation Group E Protein/metabolism |
الوصف: | 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). |
نوع الوثيقة: | article in journal/newspaper |
اللغة: | English |
تدمد: | 1768-3262 |
العلاقة: | Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Genes/FANCBID49864chXp22.htmlTest; Sylvie, van Twest; Andrew, Deans. FANCB (FA complementation group B). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2020, 1, p. 18-21; http://hdl.handle.net/2042/70644Test; https://doi.org/10.4267/2042/70644Test |
DOI: | 10.4267/2042/70644 |
الإتاحة: | https://doi.org/10.4267/2042/70644Test http://hdl.handle.net/2042/70644Test |
حقوق: | Open access resource - terms and conditions : http://irevues.inist.fr/utilisationTest |
رقم الانضمام: | edsbas.B1075538 |
قاعدة البيانات: | BASE |
تدمد: | 17683262 |
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DOI: | 10.4267/2042/70644 |