The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 - 2 µg/ml. Used as a reporter to detect recombinant Fumarase
Use a concentration of 0.01 - 0.03 µg/ml. Detects a band of approximately 48 kDa (predicted molecular weight: 55 kDa).
FunctionAlso acts as a tumor suppressor.
PathwayCarbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1.
Involvement in diseaseDefects 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].
Sequence similaritiesBelongs to the class-II fumarase/aspartase family. Fumarase subfamily.