3dlx

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Template:STRUCTURE 3dlx

Contents 1 Crystal structure of human 3-oxoacid CoA transferase 1 2 Disease 3 Function 4 About this Structure 5 Reference

Crystal structure of human 3-oxoacid CoA transferase 1

Disease

[SCOT_HUMAN] Defects in OXCT1 are a cause of succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]. A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.^[1][2][3]

Function

[SCOT_HUMAN] Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.

About this Structure

3dlx is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

1. ↑ Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. 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. 2000 Sep 1;68(2):144-51. PMID:10964512 doi:10.1006/geno.2000.6282
2. ↑ Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum Mutat. 1998;12(2):83-8. PMID:9671268 doi:<83::AID-HUMU2>3.0.CO;2-P 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P
3. ↑ Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015., Epub 2011 Feb 2. PMID:21296660 doi:10.1016/j.bbadis.2011.01.015