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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
acetoacetyl-CoA thiolase | - |
Homo sapiens |
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 |