产品名称
FANCB Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/2187
Human Swissprot No.
Q8NB91
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q8NB91/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/237211
Mouse Swissprot No.
Q5XJY6
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q5XJY6
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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 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.,function:DNA repair protein required for FANCD2 ubiquitination.,sequence caution:Contaminating sequence. Potential poly-A sequence.,subunit:Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
