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Product Name FANCE Chinese Name 范可尼贫血相关蛋白E抗体 Alias 2810451D06Rik; AI415634; AW209126; FACE; FAE; FANCE; FANCE_HUMAN; Fanconi anemia complementation group E; Fanconi anemia group E protein; Protein FACE; RGD1561045. Research Area Cell biology Developmental biology Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 59kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human FANCE: 431-536/536 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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 E. [provided by RefSeq, Jul 2008].
Function:
Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
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. Interacts with FANCC and FANCD2.
Subcellular Location:
Nucleus.
DISEASE:
Defects in FANCE 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.
SWISS:
Q9HB96
Gene ID:
2178
Database links:Entrez Gene: 2178 Human
Omim: 613976 Human
SwissProt: Q9HB96 Human
Unigene: 302003 Human
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