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.

Dettagli prodotto

• Codice: PKSH032463_50μg
• Marca: Elabscience
• Specie target: Human
• Host: HEK293 Cells
• Confezionamento: Lyophilized from a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, pH 8.5.<br/>Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization.<br/>Please refer to the specific buffer information in the printed manual.
• Link: Apri link
• Stoccaggio: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
• Simbolo target: Fumarylacetoacetase;FAH
• Ig target: Beta-Diketonase;FAA;FAH;Fumarylacetoacetase;Fumarylacetoacetate Hydrolase
• Area di ricerca: Signal Transduction;Cancer;metabolism;