|Other Names||Fumarate hydratase, mitochondrial, Fumarase, FH|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Also acts as a tumor suppressor.|
|Cellular Location||Isoform Mitochondrial: Mitochondrion.|
|Tissue Location||Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology|
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The protein encoded by this gene is an enzymatic componentof the tricarboxylic acid (TCA) cycle, or Krebs cycle, andcatalyzes the formation of L-malate from fumarate. It exists inboth a cytosolic form and an N-terminal extended form, differingonly in the translation start site used. The N-terminal extendedform is targeted to the mitochondrion, where the removal of theextension generates the same form as in the cytoplasm. It issimilar to some thermostable class II fumarases and functions as ahomotetramer. Mutations in this gene can cause fumarase deficiencyand lead to progressive encephalopathy.
Shimada, M., et al. Hum. Genet. 128(4):433-441(2010)Allegri, G., et al. J. Inherit. Metab. Dis. 33(4):411-419(2010)Yogev, O., et al. PLoS Biol. 8 (3), E1000328 (2010) :Yang, Y., et al. Cancer Genet. Cytogenet. 196(1):45-55(2010)Rikova, K., et al. Cell 131(6):1190-1203(2007)
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