Cloned (Comment) | Organism |
---|---|
expressed in SCOT-deficient fibroblasts of GS01 | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood platelet | - |
Homo sapiens | - |
lymphocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
succinyl-CoA + acetoacetate | - |
Homo sapiens | succinate + acetoacetyl-CoA | - |
? |
Synonyms | Comment | Organism |
---|---|---|
OXCT1 | - |
Homo sapiens |
SCOT | - |
Homo sapiens |
succinyl-CoA:3-ketoacid CoA transferase | - |
Homo sapiens |
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 |