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Recombinant Human Fumarylacetoacetase/FAH Protein (His Tag)
SKU: PKSH032463-50
Recombinant Human Fumarylacetoacetase/FAH Protein (His Tag)
| SKU # | PKSH032463 |
| Expression Host | HEK293 Cells |
Description
| Synonyms | Beta-Diketonase, FAA, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase |
| Species | Human |
| Expression Host | HEK293 Cells |
| Sequence | Ser2-Ser419 |
| Accession | P16930 |
| Calculated Molecular Weight | 47.4 kDa |
| Observed Molecular Weight | 43 kDa |
| Tag | C-His |
| Bio-activity | Not validated for activity |
Properties
| Purity | > 95 % as determined by reducing SDS-PAGE. |
| Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method. |
| Storage | 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. |
| Shipping | This product is provided as lyophilized powder which is shipped with ice packs. |
| Formulation | Lyophilized from a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, pH 8.5. Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization. Please refer to the specific buffer information in the printed manual. |
| Reconstitution | Please refer to the printed manual for detailed information. |
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.