MECR
Chr 1ARmitochondrial trans-2-enoyl-CoA reductase
Also known as: CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16
The protein is a mitochondrial oxidoreductase that catalyzes the final step in mitochondrial fatty acid synthesis. Autosomal recessive mutations cause childhood-onset dystonia with optic atrophy and basal ganglia abnormalities. The pathogenic mechanism involves loss of function, disrupting mitochondrial fatty acid biosynthesis essential for proper neuronal function.
Moderate evidence — consider for supplementary testing
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
MECR · 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