Fumarylacetoacetate hydrolase (FAH) Human Recombinant Protein

Specifications

Product Data
Species	Human
Protein Source	Human
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) Ser2-Ser419
Tag	C-His
Buffer	Lyophilized from a 0.2 um filtered solution of 20mM Tris-HCl,150mM NaCl,pH8.5.
Note	Recombinant Human Fumarylacetoacetase is produced by our Mammalian expression system and the target gene encoding Ser2-Ser419 is expressed with a 6His tag at the C-terminus.
Storage	Lyophilized protein should be stored at < -20°C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 4-7°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
Stability	12 months from date of despatch
Reference Data
Locus ID	2184
UniProt ID	P16930
Synonyms	Fumarylacetoacetase; FAA; Beta-Diketonase; Fumarylacetoacetate Hydrolase; FAH
Summary	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.
Protein Families	Druggable Genome
Protein Pathways	Metabolic pathways, Tyrosine metabolism

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