EC Number | Cloned (Comment) | Organism |
---|---|---|
2.8.3.5 | cDNA from patient with SCOT deficiency | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
2.8.3.5 | C456F | missense mutation derived from a SCOT-deficient patient, no enzyme activity | Homo sapiens |
2.8.3.5 | T58M | missense mutation derived from a SCOT-deficient patient, enzyme is functional | Homo sapiens |
2.8.3.5 | V133E | missense mutation derived from a SCOT-deficient patient, no enzyme activity | Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.8.3.5 | succinyl-CoA + acetoacetate | Homo sapiens | enzyme deficiency leads to ketoacidotic crises and persistent ketosis | ? | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.8.3.5 | Homo sapiens | - |
SCOT-deficient patients | - |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
2.8.3.5 | fibroblast | - |
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 | - |
? | |
2.8.3.5 | succinyl-CoA + acetoacetate | enzyme deficiency leads to ketoacidotic crises and persistent ketosis | Homo sapiens | ? | - |
? |