F8
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
Full Name
Coagulation Factor VIII
Research Area
Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
Biological Process
Acute-phase response Source: UniProtKB-KW
Blood coagulation Source: ProtInc
Blood coagulation, intrinsic pathway Source: GO_Central
Blood coagulation Source: ProtInc
Blood coagulation, intrinsic pathway Source: GO_Central
Cellular Location
Extracellular space
Involvement in disease
Hemophilia A (HEMA):
The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein. A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein. A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
PTM
Sulfation on Tyr-1699 is essential for binding vWF.
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Anti-F8 antibodies
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CompareTarget: F8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBYY-C2452
Application*: E
Target: F8
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBT524
Application*: WB, E
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBT2968
Application*: WB
Target: F8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: B2
Application*: E
Target: F8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 226
Application*: E
Target: F8
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-3549
Application*: E
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2382
Application*: E, WB, IP
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Pig
Clone: CBXF-3354
Application*: E, WB
Target: F8
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBXF-3353
Application*: WB, IP
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-3352
Application*: E, WB
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-3349
Application*: E, WB
Target: F8
Host: Human
Antibody Isotype: IgG
Specificity: Human
Clone: 104
Application*: E, WB
Target: F8
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-1915
Application*: E
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2773
Application*: E
Target: F8
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2200
Application*: E, WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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