FAH

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq]
Full Name
fumarylacetoacetate hydrolase (fumarylacetoacetase)
Research Area
Arginine catabolic process Source: Ensembl
Homogentisate catabolic process Source: GO_Central
L-phenylalanine catabolic process Source: GO_Central
Tyrosine catabolic process Source: GO_Central
Cellular Location
Cytosol; Extracellular exosome
Involvement in disease
Tyrosinemia 1 (TYRSN1):
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.
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Anti-FAH antibodies

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Mouse Anti-FAH Recombinant Antibody (3G2) (CBMAB-F2280-CQ)

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Target: FAH
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3G2
Application*: E
Datasheet SDS

Rabbit Anti-FAH Recombinant Antibody (CBXF-0269) (CBMAB-F2182-CQ)

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Target: FAH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-0269
Application*: WB, P
Datasheet SDS

Rabbit Anti-FAH Recombinant Antibody (CBXF-3460) (CBMAB-F1040-CQ)

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Target: FAH
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-3460
Application*: WB, P
Datasheet SDS
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(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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