DECR1: 2,4-Dienoyl-CoA Reductase 1
Mitochondrial fatty acid beta-oxidation enzyme
Gene Information Card
| Symbol | DECR1 |
|---|---|
| Full Name | 2,4-Dienoyl-CoA Reductase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 1666 ncbi.nlm.nih.gov/gene/1666 |
| Ensembl ID | ENSG00000104325 |
| UniProt ID | Q16698 |
| OMIM ID | 222745 |
| HGNC ID | 2753 |
| Aliases | DECR, DECR1_HUMAN, MGC150433, MGC150434 |
Description
DECR1 encodes 2,4-dienoyl-CoA reductase 1, a mitochondrial enzyme essential for the beta-oxidation of unsaturated fatty acids. It catalyzes the NADPH-dependent reduction of 2,4-dienoyl-CoA to 3-enoyl-CoA, a key step in the auxiliary pathway required for complete oxidation of fatty acids with double bonds at even-numbered positions. The enzyme is also present in peroxisomes. Deficiency of DECR1 is associated with a rare metabolic disorder characterized by hypotonia, developmental delay, and elevated unsaturated fatty acid metabolites.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| DECR1 deficiency (2,4-dienoyl-CoA reductase deficiency) | Impaired beta-oxidation of unsaturated fatty acids leads to accumulation of 2,4-dienoyl-CoA intermediates and reduced energy production | ClinVar, OMIM #222745 |
| Hypotonia | Defective mitochondrial fatty acid oxidation results in muscle weakness and low muscle tone | ClinVar, OMIM |
| Developmental delay | Metabolic energy deficit affects central nervous system development | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 10.2 | High |
| Kidney | 8.9 | Medium |
| Skeletal muscle | 7.4 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| K-562 | 6.7 | Chronic myelogenous leukemia |
| HeLa | 5.2 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475C>T (p.Arg159Trp) | Missense | Rare | Loss of enzymatic activity; associated with DECR1 deficiency |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression; severe phenotype |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Reduced NADPH binding affinity |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish reductase activity, impairing unsaturated fatty acid oxidation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 2 (GO:0008670) | • fatty acid beta-oxidation (GO:0006635) |
| • mitochondrion (GO:0005739) | • peroxisome (GO:0005777) |
| • NADP binding (GO:0050661) |
Pathways
• Fatty acid beta-oxidation (unsaturated
• even-numbered) - Reactome R-HSA-77289
• Mitochondrial fatty acid beta-oxidation - KEGG hsa00071
Protein Summary
DECR1 is a 335-amino acid mitochondrial matrix protein that functions as a homotetramer. It contains an N-terminal mitochondrial targeting sequence and a Rossmann fold NADPH-binding domain. The enzyme reduces 2,4-dienoyl-CoA to 3-enoyl-CoA using NADPH as a cofactor, enabling the continued beta-oxidation of unsaturated fatty acids. Deficiency leads to accumulation of toxic intermediates and energy deprivation in tissues with high fatty acid oxidation demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DECR1 Knockout HEK293 Cell Line | EDJ-KQ955 | Human | 1666 | Details Get a Quote |
| DECR1 Knockout A-549 Cell Line | EDJ-KQ19949 | Human | 1666 | Details Get a Quote |
| DECR1 Knockout HeLa Cell Line | EDJ-KQ19950 | Human | 1666 | Details Get a Quote |
| DECR1 Knockout HCT 116 Cell Line | EDJ-KQ18623 | Human | 1666 | Details Get a Quote |
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