Gene Symbol | OXCT1 |
Entrez Gene ID | 5019 |
Full Name | 3-oxoacid CoA-transferase 1 |
Synonyms | OXCT,SCOT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) |