Pathways > Fumarase Deficiency
Page last updated: 2024-10-06

Fumarase Deficiency

Proteins (21)

ProteinSynonymsTaxonomy
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrialEC 2.3.1.12; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; PBC; Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; Pyruvate dehydrogenase complex component E2; PDC-E2; PDCE2Homo sapiens (human)
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialEC 1.3.5.1; Iron-sulfur subunit of complex II; IpHomo sapiens (human)
Pyruvate dehydrogenase E1 component subunit beta, mitochondrialPDHE1-B; EC 1.2.4.1Homo sapiens (human)
Citrate synthase, mitochondrialEC 2.3.3.1; Citrate (Si)-synthaseHomo sapiens (human)
Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrialEC 1.1.1.41; Isocitric dehydrogenase subunit alpha; NAD(+)-specific ICDH subunit alphaHomo sapiens (human)
Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialEC 1.3.5.1; Flavoprotein subunit of complex II; FpHomo sapiens (human)
Aconitate hydratase, mitochondrialAconitase; EC 4.2.1.3; Citrate hydro-lyaseHomo sapiens (human)
Succinate dehydrogenase cytochrome b560 subunit, mitochondrialIntegral membrane protein CII-3; QPs-1; QPs1; Succinate dehydrogenase complex subunit C; Succinate-ubiquinone oxidoreductase cytochrome B large subunit; CYBLHomo sapiens (human)
Malate dehydrogenase, cytoplasmicEC 1.1.1.37; Cytosolic malate dehydrogenase; Diiodophenylpyruvate reductase; 1.1.1.96Homo sapiens (human)
Dihydrolipoyl dehydrogenase, mitochondrialEC 1.8.1.4; Dihydrolipoamide dehydrogenase; Glycine cleavage system L proteinHomo sapiens (human)
Pyruvate carboxylase, mitochondrialEC 6.4.1.1; Pyruvic carboxylase; PCBHomo sapiens (human)
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialEC 1.2.4.1; PDHE1-A type IHomo sapiens (human)
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialEC 1.2.4.2; Dehydrogenase E1 and transketolase domain-containing protein 1Homo sapiens (human)
Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrialEC 6.2.1.4; EC 6.2.1.5; Succinyl-CoA synthetase subunit alpha; SCS-alphaHomo sapiens (human)
Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrialEC 2.3.1.61; 2-oxoglutarate dehydrogenase complex component E2; OGDC-E2; Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex; E2KHomo sapiens (human)
Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrialEC 6.2.1.4; GTP-specific succinyl-CoA synthetase subunit beta; G-SCS; GTPSCS; Succinyl-CoA synthetase beta-G chain; SCS-betaGHomo sapiens (human)
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialCybS; CII-4; QPs3; Succinate dehydrogenase complex subunit D; Succinate-ubiquinone oxidoreductase cytochrome b small subunit; Succinate-ubiquinone reductase membrane anchor subunitHomo sapiens (human)
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrialIsocitric dehydrogenase subunit beta; NAD(+)-specific ICDH subunit betaHomo sapiens (human)
Fumarate hydratase, mitochondrialFumarase; HsFH; EC 4.2.1.2Homo sapiens (human)
Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrialIsocitric dehydrogenase subunit gamma; NAD(+)-specific ICDH subunit gammaHomo sapiens (human)
Mitochondrial pyruvate carrier 1Brain protein 44-like proteinHomo sapiens (human)

Compounds (22)

CompoundDescription
hydronium ion
pyruvic acidAn intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
Orthophosphate
succinic acidA water-soluble, colorless crystal with an acid taste that is used as a chemical intermediate, in medicine, the manufacture of lacquers, and to make perfume esters. It is also used in foods as a sequestrant, buffer, and a neutralizing agent. (Hawley's Condensed Chemical Dictionary, 12th ed, p1099; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1851)
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
NADH
1,5-dihydro-fadchromophore component of E coli DNA photolyase
coenzyme q10Ubiquinone ring with a chain of 10 isoprene units; redox equilibrium with ubiqunol serving in mitochondrial inner membrane to transfer electrons; presence during reconstitution of acetylcholine receptor into phospholipid vesicles yields vesicles active in catalyzing carbamylcholine-sensitive Na+ flux; coenzyme Q10 depletion has been noted with use of statins
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
flavin-adenine dinucleotideA condensation product of riboflavin and adenosine diphosphate. The coenzyme of various aerobic dehydrogenases, e.g., D-amino acid oxidase and L-amino acid oxidase. (Lehninger, Principles of Biochemistry, 1982, p972)
hydrogen carbonate
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Coenzyme A
isocitric acidRN given refers to unlabeled parent cpd
alpha-ketoglutaric acid
ubiquinol-10reduced form of coenzyme Q10
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
oxaloacetic acidA dicarboxylic acid ketone that is an important metabolic intermediate of the CITRIC ACID CYCLE. It can be converted to ASPARTIC ACID by ASPARTATE TRANSAMINASE.
malic acid
acetyl coenzyme aAcetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.
aconitic acidA tricarboxylic acid with the formula (COOH)-CH2-C(COOH)=CH-COOH.
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