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Fumarylacetoacetate Hydrolase (FAH)

FAA; Fumarylacetoacetase; Tyrosinemia 1; Beta-diketonase

In an individual homozygous for pseudodeficiency of FAH and in 3 hereditary tyrosinemia type I families also carrying the pseudodeficiency allele, Western blotting of fibroblast extracts showed that the pseudodeficiency allele gave very little immunoreactive FAH protein, whereas Northern analysis revealed a normal amount of FAH mRNA. All the pseudodeficiency alleles were found to carry a C-to-T transition in nucleotide 1021, predicting an arg341-to-trp substitution. Site-directed mutagenesis and expression in a rabbit reticulocyte lysate system demonstrated that the arg341-to-trp mutation gave reduced FAH activity and reduced amounts of the full-length protein. The normal and the mutated sequences could be distinguished by BsiEI restriction digestion of PCR products.

Organism species: Homo sapiens (Human)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
PO630Hu01 Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
LO630Hu71 Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits KEO630Hu ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Chicken (Gallus)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Ovis aries; Ovine (Sheep)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Cavia (Guinea pig )

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Equus caballus; Equine (Horse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Capra hircus; Caprine (Goat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Organism species: Pan-species (General)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Fumarylacetoacetate Hydrolase (FAH) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Fumarylacetoacetate Hydrolase (FAH) Bioactivity
Antibodies NONE Monoclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Fumarylacetoacetate Hydrolase (FAH) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Fumarylacetoacetate Hydrolase (FAH) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Fumarylacetoacetate Hydrolase (FAH) CLIA assay for Antigen Detection

Reference

"Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15."
Am. J. Hum. Genet. 48:525-535(1991) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]