Molecular weight (DA)
50kD
Immunogen
Recombinant Protein of Fumarate hydratase, mitochondrial
Specificity
The antibody detects endogenous fumarase proteins.
Formulation
PBS, pH 7.4, containing 0.5%BSA, 0.02% sodium azide as Preservative and 50% Glycerol.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using specific immunogen.
Background
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],
Function
catalytic activity:(S)-malate = fumarate + H(2)O.,disease:Defects in FH are the cause of fumarase deficiency (FD) [MIM:606812]; also known as 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 hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].,disease: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).,function:Also acts as a tumor suppressor.,miscellaneous:There are 2 substrate binding sites: the catalytic A site, and the non-catalytic B site that may play a role in the transfer of s
Protein name
Fumarate hydratase, mitochondrial
Other name
Fumarate hydratase, mitochondrial (Fumarase) (EC 4.2.1.2)
Fields
>>Citrate cycle (TCA cycle);>>Pyruvate metabolism;>>Metabolic pathways;>>Carbon metabolism;>>Cushing syndrome;>>Pathways in cancer;>>Renal cell carcinoma
Human protein sequence Database
P07954
Mouse protein sequence database
P97807
Rat protein sequence database
P14408
Cellular localization
[Isoform Mitochondrial]: Mitochondrion .; [Isoform Cytoplasmic]: Cytoplasm, cytosol . Nucleus . Chromosome . Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC. .
Tissue expression
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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