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Mitochondrial short-chain enoyl-CoA hydratase deficiency 1

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-9916720

PubChem

R-HSA-9916720

Description

ECHS1 (short-chain enoyl-CoA hydratase, also known as SCEH) is a mitochondrial enzyme that plays roles in fatty acid oxidation and valine metabolism (Yamada et al, 2015). In the branched-chain amino acid catabolism pathway, ECHS1 has specificity for the valine derivative methylacrylyl-CoA, but can also act on the leucine derivative 3-methylcrotonyl-CoA. ECHS1 binds to the isoleucine derivative tiglyl-CoA, but does not appreciably catalyze its hydration (Yamada et al, 2015; Ferdinandusse et al, 2015). Homozygous mutations in ECHS1 are associated with a severe Leigh-like disorder, characterized by cardiac aberrations, encephalopathy and epilepsy and severe developmental and neurological delays, likely arising at least in large measure from the accumulation of toxic levels of methylacrylyl-CoA (Peters et al, 2014; Haack et al, 2015; Yamada et al, 2015; Ferinandusse et al, 2015; Sakai et al, 2015; Tetreault et al, 2015; Kohda et al, 2016; Fitzsimmons et al, 2018).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P30084	Enoyl-CoA hydratase, mitochondrial	ECHS1	view

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