|FUNCTION : Also acts as a tumor suppressor.
CATALYTIC ACTIVITY : (S)-malate = fumarate + H 2O.
PATHWAY : Tricarboxylic acid cycle.
SUBUNIT : Homotetramer.
SUBCELLULAR LOCATION : Mitochondrial and cytoplasmic.
ALTERNATIVE PRODUCTS : 2 isoforms; a mitochondrial form (shown here) and a cytoplasmic form; are produced by alternative initiation.
DISEASE : Defects in FH are a cause of fumarase deficiency (FD), also called fumaricaciduria. FD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
DISEASE : Defects in FH are the cause of multiple cutaneous and uterine leiomyomata (MCUL1), an autosomal dominant condition in which affected individuals develop begning smooth muscle tumore (leiomyomata) of the skin. Affected females also usually develop leiomyomata of the uterus (fibroids).
DISEASE : Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC).
SIMILARITY : TO OTHER THERMOSTABLE CLASS II FUMARASES.
Last Update 20-Mar-03