Description
Product Characteristics:
Defects in FH are the cause of fumarase deficiency (FHD)also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
Subcellular location: Cytoplasm
Synonyms: mitochondrial, FH, Fumarase, Fumarate hydratase, Fumarate hydratase mitochondrial, FUMH_HUMAN, HLRCC, LRCC, MCL, MCUL 1, MCUL1, Multiple hereditary cutaneous leiomyomata.
Target Information: The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]