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Literature summary extracted from

  • Thuemmler, S.; Dupont, D.; Acquaviva, C.; Fukao, T.; de Ricaud, D.
    Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations (2010), Tohoku J. Exp. Med., 220, 27-31.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.9 M193T naturally occuring mutation leading to enzyme deficiency and to the ketoacidotic episode phenotype, but with differing clinical severity, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.3.1.9 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.3.1.9 2-methylacetoacetyl-CoA + CoA Homo sapiens cleavage of 2-methylacetoacetyl-CoA in the isoleucine catabolism acetyl-CoA + propionyl-CoA
-
 ?
2.3.1.9 acetoacetyl-CoA + CoA Homo sapiens interconversion of 2 acetyl-CoA into acetoacetyl-CoA in the ketone body metabolism 2 acetyl-CoA
-
 r

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.9 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.9 2-methylacetoacetyl-CoA + CoA
-
 Homo sapiens acetyl-CoA + propionyl-CoA
-
 ?
2.3.1.9 2-methylacetoacetyl-CoA + CoA cleavage of 2-methylacetoacetyl-CoA in the isoleucine catabolism Homo sapiens acetyl-CoA + propionyl-CoA
-
 ?
2.3.1.9 acetoacetyl-CoA + CoA
-
 Homo sapiens 2 acetyl-CoA
-
 r
2.3.1.9 acetoacetyl-CoA + CoA interconversion of 2 acetyl-CoA into acetoacetyl-CoA in the ketone body metabolism Homo sapiens 2 acetyl-CoA
-
 r

Synonyms

EC Number Synonyms Comment Organism
2.3.1.9 acetoacetyl-CoA thiolase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.9 malfunction enzyme deficiency is a rare metabolic disease of autosomal recessive inheritance characterized by intermittent ketoacidotic episodes with onset in the infant period and decline with age, overview Homo sapiens