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Literature summary for 2.8.3.5 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
Search for more literature for 2.8.3.5

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
C456F missense mutation derived from a SCOT-deficient patient, no enzyme activity Homo sapiens
T58M missense mutation derived from a SCOT-deficient patient, enzyme is functional Homo sapiens
V133E missense mutation derived from a SCOT-deficient patient, no enzyme activity Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
succinyl-CoA + acetoacetate Homo sapiens enzyme deficiency leads to ketoacidotic crises and persistent ketosis ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 SCOT-deficient patients
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
succinyl-CoA + acetoacetate
-
 Homo sapiens succinate + acetoacetyl-CoA
-
 ?
succinyl-CoA + acetoacetate enzyme deficiency leads to ketoacidotic crises and persistent ketosis Homo sapiens ?
-
 ?