Literature summary for 2.8.3.5 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.

Search for more literature for 2.8.3.5

Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
A215V	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 3.5% residual activity	Homo sapiens
E273X	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency	Homo sapiens
L327P	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 4.7% residual activity	Homo sapiens
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
S226N	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency showing no residual activity	Homo sapiens
S405P	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains no residual activity	Homo sapiens
V404F	the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains some residual activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood platelet	-	Homo sapiens	-
lymphocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

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

General Information

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

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)