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Literature summary for 2.3.1.9 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

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
acetoacetyl-CoA thiolase
-
Homo sapiens

General Information

General Information Comment Organism
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