EC Number   |
General Information |
Reference |
|---|
    6.2.1.4 | malfunction |
a patient with a SUCLG1 mutation shows steatosis in liver histology and severe lactic acidosis, one patient shows combined deficiency of respiratory chain complexes I, III and IV in liver. The accumulated succinyl-CoA inhibits the reaction catalysed by methylmalonyl-CoA mutase or causes an equilibrium shift. mtDNA depletion in succinate-CoA ligase deficiency |
693488 |
| 6.2.1.4 | malfunction |
a patient with a SUCLG1 mutation shows steatosis in liver hstology and severe lactic acidosis, one patient shows combined deficiency of respiratory chain complexes I, III and IV in liver. The accumulated succinyl-CoA inhibits the reaction catalysed by methylmalonyl-CoA mutase or causes an equilibrium shift. mtDNA depletion in succinate-CoA ligase deficiency |
693488 |
| 6.2.1.4 | malfunction |
deficiency of SUCLA2 results in Leigh's or a Leigh-like syndrome with onset of severe hypotonia in early infancy, severemuscular atrophy, and sensorineural hearing impairment. SUCLA2-related mitochondrial DNA depletion syndrome is a result of mutations in the beta subunit of the ADP-dependent isoform of the Krebs cycle succinyl-CoA synthase, phenotype, overview |
714342 |
| 6.2.1.4 | malfunction |
enzyme mutations cause the encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria |
745500 |
| 6.2.1.4 | metabolism |
key role of the enzyme in the Krebs cycle |
728078 |
| 6.2.1.4 | more |
a water molecule and Pro20beta in Thermus aquaticus interact well with the guanine base and other residues of the nucleotide-binding site leading to the preference for GDP/GTP, but does not hinder the binding of ADP/ATP. Active site and succinate binding site structure analysis, overview |
726583 |
| 6.2.1.4 | more |
the GDP-dependent isozyme SUCLG2, EC 6.2.1.5, can complement the SUCLA2-related mitochondrial DNA depletion syndrome |
714342 |
| 6.2.1.4 | physiological function |
SUCLG2, EC 6.2.1.5, to a higher degree than SUCLA2, is crucial for mtDNA maintenance involving mitochondrial NDPK |
714342 |
| 6.2.1.4 | physiological function |
the enzyme participates in the tricarboxylic acid cycle, ketone body metabolism and haem biosynthesis |
727203 |
