Aliases for ECHS1 Gene
External Ids for ECHS1 Gene
Previous GeneCards Identifiers for ECHS1 Gene
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
GeneCards Summary for ECHS1 Gene
ECHS1 (Enoyl-CoA Hydratase, Short Chain 1) is a Protein Coding gene. Diseases associated with ECHS1 include Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Valine, leucine and isoleucine degradation and Mitochondrial LC-Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include enoyl-CoA hydratase activity. An important paralog of this gene is ECHDC2.
UniProtKB/Swiss-Prot Summary for ECHS1 Gene
Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.