Fumarylacetoacetate hydrolase (FAH) Human Recombinant Protein

SKU TP726928

Recombinant Human Fumarylacetoacetase/FAH (C-6His)

Product Data

• Species: Human
• Protein Source: Human
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  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
• Shipping: Ambient

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