HPD
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Full Name
4-hydroxyphenylpyruvate dioxygenase
Function
Key enzyme in the degradation of tyrosine.
Biological Process
L-phenylalanine catabolic process Source: UniProtKB-UniPathway
Tyrosine catabolic process Source: MGI
Tyrosine catabolic process Source: MGI
Cellular Location
Cytosol; Endoplasmic reticulum membrane; Extracellular exosome; Golgi membrane
Involvement in disease
Tyrosinemia 3 (TYRSN3):
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.
Hawkinsinuria (HAWK):
An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.
Hawkinsinuria (HAWK):
An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.
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Anti-HPD antibodies
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Target: HPD
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-1882
Application*: E, EC, WB
Target: HPD
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYH-1881
Application*: WB, E
Target: HPD
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYH-1879
Application*: 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
- 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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