Krebs cycle disorders (WP4236)

This pathway shows an simplified version of the Krebs cycle (for more details see [https://www.wikipathways.org/index.php/Pathway:WP78] ), with 4 genetic diseases related to it. For succinyl-CoA synthetase deficiencies, relevant metabolic markers are depicted in light green. Patients with a mutation in the SUCLG1 might present a severe (fatal) form of mitochondrial encephalomyopathy. This pathway was inspired by Chapter 20 of the book of Blau (ISBN 3642403360 (978-3642403361)).
last edited

Authors

Richard97, Egonw, DeSl, IreneHemel, Josienlandman, MaintBot, Eweitz, Finterly, and Fehrhart

Cited In

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Organism

Homo sapiens

Communities

Diseases Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Disease Ontology: mitochondrial encephalomyopathy methylmalonic acidemia

Pathway Ontology: citric acid cycle pathway fumaric aciduria pathway

Participants

Label Type Compact Identifier
NDPK Protein eccode:2.7.4.6
SUCLA2 Protein uniprot:Q9P2R7
mtDNA synthesis Pathway wikipathways:WP111
ADP-forming (A-SCS) Protein eccode:6.2.1.5
alpha-ketoglutarate Metabolite chebi:16810
Fumarate Metabolite chebi:18012
E1-subunit Protein uniprot:Q96HY7
GDP-forming(G-SCS) Protein eccode:6.2.1.4
FH GeneProduct ncbigene:2271
2-KGD complex Protein uniprot:Q1B4V6
Oxaloacetate Metabolite wikidata:Q408658
Methylmalonyl-CoA Metabolite hmdb:HMDB0001269
(S)-malate Metabolite wikidata:Q27104150
pyruvate Metabolite chebi:15361
lactate Metabolite chebi:24996
Succinyl coenzyme A Metabolite chebi:15380
Acetyl-CoA Metabolite wikidata:Q715317
ADP Metabolite chebi:16761
propionyl Metabolite chebi:26294
ATP Metabolite chebi:15422
METHYLMALONIC ACID Metabolite chebi:30860
GTP Metabolite chebi:15996
citrate Metabolite chebi:133748
succinate Metabolite chebi:30031
methylcitrate Metabolite wikidata:Q27104155
METHYLMALONYL CARNITINE ESTER (C4DC) Metabolite hmdb:HMDB0062785
SUCCINYL CARNITINEESTER (C4DC) Metabolite None
3-HYDROXYPROPIONATE Metabolite wikidata:Q27101949
PROPIONYLCARNITINE (C3) Metabolite wikidata:Q27103933
E2-subunit Protein uniprot:P36957
E3-subunit Protein uniprot:O00330
SUCLG1 Protein uniprot:P53597
SUCLG2 Protein uniprot:Q96I99
GDP Metabolite chebi:17552
SUCLG1 Protein uniprot:P53597
GDP-forming(G-SCS) Protein eccode:6.2.1.4
SUCLG1 Protein uniprot:P53597
SUCLG2 Protein uniprot:Q96I99
SUCLA2 Protein uniprot:Q9P2R7
ADP-forming (A-SCS) Protein eccode:6.2.1.5
SUCLG1 Protein uniprot:P53597
GDP-forming(G-SCS) Protein eccode:6.2.1.4
SUCLG1 Protein uniprot:P53597
SUCLG2 Protein uniprot:Q96I99
NDPK Protein eccode:2.7.4.6
SUCLA2 Protein uniprot:Q9P2R7
ADP-forming (A-SCS) Protein eccode:6.2.1.5
SUCLG1 Protein uniprot:P53597
NDPK Protein eccode:2.7.4.6

References

  1. Kadrmas EF, Ray PD, Lambeth DO. Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit. Biochim Biophys Acta. 1991 Aug 6;1074(3):339–46. PubMed Europe PMC Scholia
  2. Kavanaugh-Black A, Connolly DM, Chugani SA, Chakrabarty AM. Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):5883–7. PubMed Europe PMC Scholia
  3. Kowluru A, Tannous M, Chen H-Q. Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys. 2002 Feb 15;398(2):160–9. PubMed Europe PMC Scholia
  4. PubMed Europe PMC Scholia