免疫原
Synthesized peptide derived from human FANCB AA range: 585-635
特异性
This antibody detects endogenous levels of FANCB at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016],
功能
disease:Defects in FANCB are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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.,disease:Defects in FANCB are the cause of cause of Fanconi anemia complementation group B (FANCB) [MIM:300514]; also called Fanconi pancytopenia type 2 (FA2).,disease: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 anomalie
