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Literature summary extracted from

  • Fukao, T.; Sass, J.O.; Kursula, P.; Thimm, E.; Wendel, U.; Ficicioglu, C.; Monastiri, K.; Guffon, N.; Bari?, I.; Zabot, M.T.; Kondo, N.
    Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency (2011), Biochim. Biophys. Acta, 1812, 619-624.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.8.3.5 expressed in SCOT-deficient fibroblasts of GS01 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.8.3.5 A215V the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 3.5% residual activity Homo sapiens
2.8.3.5 E273X the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency Homo sapiens
2.8.3.5 L327P the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 4.7% residual activity Homo sapiens
2.8.3.5 R468C the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 12% and 51% of wild type residual activities at 37 and 30°C, respectively Homo sapiens
2.8.3.5 S226N the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency showing no residual activity Homo sapiens
2.8.3.5 S405P the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains no residual activity Homo sapiens
2.8.3.5 V404F the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains some residual activity Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.8.3.5 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.8.3.5 blood platelet
-
Homo sapiens
-
2.8.3.5 lymphocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.8.3.5 succinyl-CoA + acetoacetate
-
Homo sapiens succinate + acetoacetyl-CoA
-
?

Synonyms

EC Number Synonyms Comment Organism
2.8.3.5 OXCT1
-
Homo sapiens
2.8.3.5 SCOT
-
Homo sapiens
2.8.3.5 succinyl-CoA:3-ketoacid CoA transferase
-
Homo sapiens

General Information

EC Number General Information Comment Organism
2.8.3.5 malfunction succinyl-CoA:3-ketoacid CoA transferase deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis Homo sapiens