2f2s

Human mitochondrial acetoacetyl-CoA thiolase

spinqualitylabelsall models 2f2s, resolution 2.00Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 2f2s is a 4 chain structure with sequence from Human. This structure supersedes the now removed PDB entry 2es8. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Ligands: CL, COA NonStd Res: SCY Gene: ACAT1, ACAT, MAT (HUMAN) Activity: Acetyl-CoA C-acetyltransferase, with EC number 2.3.1.9 Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease [THIL_HUMAN] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:203750]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. Function [THIL_HUMAN] Plays a major role in ketone body metabolism. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See Also Thiolase 3D structures

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