基因名称(Gene Name)
FANCD2 FACD
蛋白名称
Fanconi anemia group D2 protein (Protein FACD2)
免疫原
Synthesized peptide derived from human FANCD2 (Phospho Thr691)
特异性
This antibody detects endogenous levels of FANCD2 (Phospho Thr691) Rabbit pAb at Human, Mouse,Rat
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
稀释比例
WB 1:500-2000 IHC 1:50-200
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
其他名称
Fanconi anemia group D2 protein (Protein FACD2)
背景
Fanconi anemia complementation group D2(FANCD2) Homo sapiens The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repai
功能
developmental stage:Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level).,disease:Defects in FANCD2 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.,domain:The C-terminal 24 residues of isoform 2 are required for its function.,function:Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-stra
