The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Fanconi anemia associated polypeptide of 95 kDa
Fanconi anemia group B protein
Fanconi anemia, complementation group B
Fanconi anemia-associated polypeptide of 95 kDa
DNA repair protein required for FANCD2 ubiquitination.
Involvement in disease
Defects in FANCB are the cause of Fanconi anemia complementation group B (FANCB) [MIM:300514]. 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. Defects in FANCB are the cause of X-linked VACTERL-H (XVACTERL-H) [MIM:314390]; also known as X-linked VACTERL association with hydrocephalus syndrome. VACTERL is an acronym for vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.