HGD
Homogentisate 1,2-dioxygenase (HGD) gene mutations are the molecular cause of alkaptonuria, a rare hereditary disorder of the phenylalanine catabolism. The highest expression of HGD is in the prostate, small intestine, colon, and liver. The HGD gene contains 14 exons. Conflicting reports have placed the gene at 3q2, 3q13.3-q21, 3q21-q24, 3q21-q23, or 3q25-q26. [provided by RefSeq]
Full Name
homogentisate 1,2-dioxygenase (homogentisate oxidase)
Biological Process
L-phenylalanine catabolic process Source: GO_Central
Tyrosine catabolic process Source: ProtInc
Tyrosine catabolic process Source: ProtInc
Cellular Location
Cytosol; Extracellular exosome
Involvement in disease
Alkaptonuria (AKU):
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
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Anti-HGD antibodies
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Target: HGD
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3G4
Application*: WB, E
Target: HGD
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 1F1
Application*: IF, E
Target: HGD
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYH-1012
Application*: E, EC, IF
Target: HGD
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYH-1010
Application*: E, IF, IP
Target: HGD
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-1009
Application*: E, IP, WB
Target: HGD
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYH-1008
Application*: IF, SE, E
Target: HGD
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 20D12
Application*: E, IH
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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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