MECR: Mitochondrial Enoyl-CoA Reductase
A key enzyme in mitochondrial fatty acid synthesis and a gene associated with neurodegenerative disorders
Gene Information Card
| Symbol | MECR |
|---|---|
| Full Name | mitochondrial trans-2-enoyl-CoA reductase |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.3 |
| NCBI Gene ID | 51102 ncbi.nlm.nih.gov/gene/51102 |
| Ensembl ID | ENSG00000116353 |
| UniProt ID | Q9BV79 |
| OMIM ID | 608205 |
| HGNC ID | 19691 |
| Aliases | NRBF1, MEPAS, CGI-63 |
Description
MECR encodes mitochondrial trans-2-enoyl-CoA reductase, a nuclear-encoded enzyme that catalyzes the last step of mitochondrial fatty acid synthesis (mtFAS). It reduces trans-2-enoyl-ACP to acyl-ACP using NADPH. This pathway is essential for mitochondrial function, including lipoic acid biosynthesis and oxidative phosphorylation. Mutations in MECR cause mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAS), a disorder characterized by dystonia, optic atrophy, and basal ganglia iron accumulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAS) | Loss-of-function mutations impair mtFAS, leading to reduced lipoic acid synthesis, mitochondrial dysfunction, and iron accumulation in the brain. | ClinVar, OMIM #617282 |
| Dystonia-parkinsonism | Disruption of mitochondrial energy metabolism in neurons due to MECR deficiency contributes to motor symptoms. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Heart | 7.1 | Medium |
| Skeletal Muscle | 6.8 | Medium |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| SH-SY5Y | 9.8 | Neuronal model |
| HepG2 | 8.1 | Liver cell line |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.737G>A (p.Arg246Gln) | Missense | Rare | Reduced enzyme activity; associated with MEPAS |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; pathogenic |
| c.835C>T (p.Arg279Trp) | Missense | Rare | Impaired NADPH binding; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most MECR mutations are loss-of-function, reducing or abolishing enoyl-CoA reductase activity, leading to mtFAS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lipid metabolic process (GO:0006629) | • mitochondrion (GO:0005739) |
| • 2-enoyl-CoA reductase (NADPH) activity (GO:0008691) | • fatty acid biosynthetic process (GO:0006633) |
| • oxidoreductase activity (GO:0016491) |
Pathways
• Mitochondrial fatty acid synthesis (mtFAS)
• Lipoic acid metabolism
• Fatty acid elongation in mitochondria
Protein Summary
MECR is a 373-amino acid protein localized to the mitochondrial matrix. It functions as a homodimer, using NADPH to reduce trans-2-enoyl-ACP to acyl-ACP. This step is critical for producing octanoyl-ACP, a precursor for lipoic acid synthesis. The enzyme is highly conserved across eukaryotes. Structural studies show a Rossmann fold for NADPH binding and a catalytic triad. Defects in MECR lead to mitochondrial dysfunction and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MECR Knockout HEK293T Cell Line | EDC08075 | Human | 51102 | Details Get a Quote |
