The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Specific activity is > 1.0 unit/mg, and is defined as the amount of enzyme that cleaves 1 µmole of L-Malate to Fumarate per minute at pH 7.5 at 25°C
< 1.000 Eu/µg
>95% by SDS-PAGE .
Centrifuge the vial prior to opening
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
pH: 8.00 Constituent: 0.32% Tris HCl
This product is an active protein and may elicit a biological response in vivo, handle with caution.
Fumarate hydratase mitochondrial
Fumarate hydratase, mitochondrial
Multiple hereditary cutaneous leiomyomata
Also acts as a tumor suppressor.
Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1.
Involvement in disease
Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Defects in FH are the cause of multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]. MCUL1 is an autosomal dominant condition in which affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin. Affected females also usually develop leiomyomata of the uterus (fibroids). Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].
Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.