HFE2
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq]
Full Name
hemochromatosis type 2 (juvenile)
Biological Process
BMP signaling pathway Source: Ensembl
Cellular iron ion homeostasis Source: Ensembl
Negative regulation of BMP signaling pathway Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Cellular iron ion homeostasis Source: Ensembl
Negative regulation of BMP signaling pathway Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Cellular Location
Cell membrane; Membrane
Topology
Helical: 405-425
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Anti-HFE2 antibodies
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Target: HFE2
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1C12
Application*: WB, E
Target: HFE2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-3557
Application*: E
Target: HFE2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBFYH-1006
Application*: E
Target: HFE2
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-1004
Application*: E, P, WB
Target: HFE2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: Fery-1
Application*: F, IP
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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
- IGImmunochromatography
- 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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