Recombinant Human Fumarylacetoacetase/FAH Protein (His Tag) (RPES4423)

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ELISA Kit Technical Manual

Recombinant Human Fumarylacetoacetase/FAH Protein (His Tag)

Background:Fumarylacetoacetase belongs to the FAH family. Fumarylacetoacetase is primary expressed in liver and kidney. It exists as a homodimer and catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate. Defects in Fumarylacetoacetase cause tyrosinemia type 1, which is congenital metabolism defect characterized by elevated levels of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include renal tubular injury, self-mutilation, hepatic necrosis, episodic weakness, and seizures.
Name:Recombinant Human Fumarylacetoacetase/FAH Protein (His Tag)
Assay Genie SKU:RPES4423
Synonyms:Fumarylacetoacetase; FAA; Beta-Diketonase; Fumarylacetoacetate Hydrolase; FAH
Expression host:Human Cells
Mol Mass:47.4 kDa
AP Mol Mass:47 kDa
Purity:> 95 % as determined by reducing SDS-PAGE.
Endotoxin:< 1.0 EU per µg as determined by the LAL method.
Storage:Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8? for 2-7 days. Aliquots of reconstituted samples are stable at < -20'C for 3 months.
Shipping:This product is provided as lyophilized powder which is shipped with ice packs.
Formulation:Lyophilized from a 0.2 um filtered solution of PBS, pH7.4.
Reconstitution:Please refer to the printed manual for detailed information.
UniProt Protein Function:FAH: Defects in FAH are the cause of tyrosinemia type 1 (TYRO1). 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. Belongs to the FAH family.
UniProt Protein Details:

Protein type:Amino Acid Metabolism - tyrosine; EC; Hydrolase

Chromosomal Location of Human Ortholog: 15q25.1

Cellular Component: cytosol

Molecular Function:fumarylacetoacetase activity; metal ion binding

Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process; arginine catabolic process

Disease: Tyrosinemia, Type I

NCBI Summary:This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
UniProt Code:P16930
NCBI GenInfo Identifier:119778
NCBI Gene ID:2184
NCBI Accession:P16930.2
UniProt Related Accession:P16930
Molecular Weight:~ 46kDa
NCBI Full Name:Fumarylacetoacetase
NCBI Synonym Full Names:fumarylacetoacetate hydrolase
NCBI Official Symbol:FAH  
NCBI Protein Information:fumarylacetoacetase
UniProt Protein Name:Fumarylacetoacetase
UniProt Synonym Protein Names:Beta-diketonase; Fumarylacetoacetate hydrolase
Protein Family:Fumarylacetoacetase
UniProt Gene Name:FAH  
UniProt Entry Name:FAAA_HUMAN
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Additional Information

Product type:
Recombinant Protein
Host species:
Human Cells
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