ECI1
Chr 16enoyl-CoA delta isomerase 1
Also known as: DCI
The protein is a key mitochondrial enzyme that catalyzes the isomerization of 3-cis and 3-trans-enoyl-CoA esters to 2-trans-enoyl-CoA intermediates during beta-oxidation of unsaturated fatty acids. Mutations cause autosomal recessive defects in fatty acid oxidation leading to metabolic dysfunction. The gene shows very low constraint against loss-of-function variants (extremely low pLI score), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ECI1 · 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