ECHS1

Chr 10AR

enoyl-CoA hydratase, short chain 1

Also known as: ECHS1D, SCEH, mECH, mECH1

NCBI Gene: 1892 ENSG00000127884 UniProt: P30084 OMIM: 602292

ECHS1 encodes mitochondrial short-chain enoyl-CoA hydratase, which catalyzes the hydration of 2-trans-enoyl-CoA intermediates to L-3-hydroxyacyl-CoAs in the second step of mitochondrial fatty acid beta-oxidation. Biallelic mutations cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, an autosomal recessive disorder resulting from loss of enzyme function. The low pLI score is consistent with the recessive inheritance pattern, where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyMIM #616277

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ECHS1