EC Number | Cloned (Comment) | Organism |
---|---|---|
2.8.3.5 | expressed in SCOT-deficient fibroblasts of GS01 | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
2.8.3.5 | A215V | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 3.5% residual activity | Homo sapiens |
2.8.3.5 | E273X | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency | Homo sapiens |
2.8.3.5 | L327P | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 4.7% residual activity | Homo sapiens |
2.8.3.5 | 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 |
2.8.3.5 | S226N | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency showing no residual activity | Homo sapiens |
2.8.3.5 | S405P | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains no residual activity | Homo sapiens |
2.8.3.5 | V404F | the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains some residual activity | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.8.3.5 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
2.8.3.5 | blood platelet | - |
Homo sapiens | - |
2.8.3.5 | lymphocyte | - |
Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.8.3.5 | succinyl-CoA + acetoacetate | - |
Homo sapiens | succinate + acetoacetyl-CoA | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.8.3.5 | OXCT1 | - |
Homo sapiens |
2.8.3.5 | SCOT | - |
Homo sapiens |
2.8.3.5 | succinyl-CoA:3-ketoacid CoA transferase | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
2.8.3.5 | malfunction | succinyl-CoA:3-ketoacid CoA transferase deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis | Homo sapiens |