DECR1
Chr 82,4-dienoyl-CoA reductase 1
Also known as: DECR, NADPH, SDR18C1
DECR1 encodes an auxiliary enzyme that catalyzes the NADPH-dependent reduction of 2,4-dienoyl-CoA to trans-3-enoyl-CoA during mitochondrial beta-oxidation of unsaturated fatty acids. Mutations cause hyperlysinemia with saccharopinuria, an autosomal recessive disorder affecting amino acid metabolism. This gene is not highly constrained against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
No known disease relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
117 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 40 | 9 | 0 | 49 |
Likely Benign | 0 | 6 | 0 | 3 | 9 |
Benign | 0 | 0 | 2 | 2 | 4 |
| Total | 0 | 46 | 44 | 5 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DECR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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