DECR1

Chr 8

2,4-dienoyl-CoA reductase 1

Also known as: DECR, NADPH, SDR18C1

Enables 2,4-dienoyl-CoA reductase (NADPH) activity; NADPH binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in cytosol; mitochondrion; and nucleoplasm. Part of catalytic complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProt2,4-dienoyl-CoA reductase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
progressive encephalopathy with leukodystrophy due to DECR deficiency · UDNo Known Disease Relationshipno established gene-disease relationship
0
Active trials
26
Pubs (1 yr)
P/LP submissions
P/LP missense
1.68
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.68LOEUF
pLI 0.000
Z-score -0.58
OE 1.15 (0.801.68)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.03Z-score
OE missense 0.99 (0.881.12)
180 obs / 181.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.15 (0.801.68)
00.351.4
Missense OE?0.99 (0.881.12)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 19 / 16.5Missense obs/exp: 180 / 181.2Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →