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)
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]