ECHS1: Human Enoyl-CoA Hydratase 1
PDB Code: 2HW5
Mitochondrial enoyl CoA hydratase 1 (ECHS1) catalyzes the second step of mitochondrial fatty acid beta-oxidation by performing the hydration of enoyl CoA intermediates to the S-hydroxyacyl-thioesters, which are substrates for the hydroxyacyl-CoA dehydrogenases. ECHS1, with a preference for short and medium chain enoyl-CoAs, mitochondria contain the trifunctional protein with an integrated hydratase activity, localized to the mitochondrial membrane, and which acts preferentially on long-chain fatty acyl- CoAs. ECHS1 is localized to the mitochondrial matrix, and is ubiquitously expressed, with highest activity found in liver. The human gene is localized to chromosome 10q26.2-q26.3.
Inherited disorders of this pathway of energy metabolism present clinical and laboratory features resembling sudden infant death syndrome and Reye-like syndrome, however it is unknown at present if genetic aberrations of ECHS1 contribute to these syndromes.

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