Article
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Genomics - 1 Sept 2000
Fukao T, Mitchell G A, Song X Q, Nakamura H, Kassovska-Bratinova S, Orii K E, Wraith J E, Besley G, Wanders R J, Niezen-Koning K E, Berry G T, Palmieri M, Kondo N
Abstract excerpt
The activity of succinyl-CoA:3-ketoacid CoA transferase (SCOT; locus symbol OXCT; EC 2.8.3.5) is the main determinant of the ketolytic capacity of tissues. Hereditary SCOT deficiency causes episodic ketoacidosis. Here we describe the human SCOT gene, which spans more than 100 kb and contains 17 exons, on chromosome 5p13. We report pathogenic missense mutations in three SCOT-deficient patients designated GS04, 05,...
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