ECHS1
Chr 10ARenoyl-CoA hydratase, short chain 1
Also known as: ECHS1D, SCEH, mECH, mECH1
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.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ECHS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools