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FANCE

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]
Full Name
Fanconi Anemia Complementation Group E
Research Area
As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
Biological Process
Interstrand cross-link repair Source: InterPro
Cellular Location
Nucleus
Involvement in disease
Fanconi anemia complementation group E (FANCE):
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.
PTM
Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair.
Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.

Anti-FANCE antibodies

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Target: FANCE
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: L5-P1E6
Application*: E, IH, WB
Target: FANCE
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: G5
Application*: ELISA, IHC, WB
Target: FANCE
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: L5-P1E6/G5
Application*: WB, E, IH
Target: FANCE
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBXF-2302
Application*: DB, WB
Target: FANCE
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBXF-0291
Application*: WB
Target: FANCE
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-1724
Application*: WB, IP, IF, E
Target: FANCE
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-2841
Application*: DB, WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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