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Literature summary extracted from

  • Song, X.Q.; Fukao, T.; Watanabe, H.; Shintaku, H.; Hirayama, K.; Kassovska-Bratinova, S.; Kondo, N.; Mitchell, G.A.
    Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings (1998), Hum. Mutat., 12, 83-88.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.8.3.5 cDNA from patient with SCOT deficiency Homo sapiens

Protein Variants

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

Natural Substrates/ Products (Substrates)

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 ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.8.3.5 Homo sapiens
-
 SCOT-deficient patients
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.8.3.5 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

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 ?
-
 ?