The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab116496 was purified by proprietary chromatographic techniques and filter sterilized.
Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Please see notes section.
pH: 8.00 Constituent: 0.32% Tris HCl
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.