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Protein Page:
FANCB (human)

Overview
FANCB DNA repair protein required for FANCD2 ubiquitination. Defects in FANCB are the cause of Fanconi anemia complementation group B (FANCB). It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: Xp22.2
Cellular Component: nucleoplasm
Molecular Function: protein binding
Disease: Fanconi Anemia, Complementation Group B; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Vacterl Association, X-linked, With Or Without Hydrocephalus
Reference #:  Q8NB91 (UniProtKB)
Alt. Names/Synonyms: FA2; FAAP90; FAAP95; FAB; FACB; FANCB; Fanconi anemia group B protein; Fanconi anemia, complementation group B; Fanconi anemia-associated polypeptide of 95 kDa; Protein FACB; type 2 Fanconi pancytopenia
Gene Symbols: FANCB
Molecular weight: 97,726 Da
Basal Isoelectric point: 7.79  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

FANCB

Protein Structure Not Found.


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