期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 36, 期 6, 页码 983-987出版社
WILEY
DOI: 10.1007/s10545-013-9589-z
关键词
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资金
- Canadian Institutes for Health Research [1097737]
- Canada Foundation for Innovation
- Genome Canada through the Ontario Genomic Institute
- GlaxoSmithKline
- Karolinska Institutet
- Knut and Alice Wallenberg Innovation
- Merck and Co., Inc.
- Novartis Research Foundation
- Swedish Agency for Innovation Systems
- Swedish Foundation for Strategic Research
- Wellcome Trust
- Grants-in-Aid for Scientific Research [24591505] Funding Source: KAKEN
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are 20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SCOT catalyzes the first, rate-limiting step of ketone body utilization in peripheral tissues, by transferring a CoA moiety from succinyl-CoA to form acetoacetyl-CoA, for entry into the tricarboxylic acid cycle for energy production. We have determined the crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects. An interactive version of this manuscript (which may contain additional mutations appended after acceptance of this manuscript) may be found on the web address: http://www.thesgc.org/jimd/SCOT.
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