MECR Chromosome 1
Mitochondrial trans-2-enoyl-CoA reductase
Upload your DNA to see your personal genotypes for variants in MECR.
What This Gene Does
The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
Associated Conditions (9)
Inborn genetic diseases
Dystonia
childhood-onset
with optic atrophy and basal ganglia abnormalities
Optic atrophy
Childhood Onset Dystonias
Optic atrophy 16
MECR-related disorder
Mitochondrial disease
Key Variants
RS11544658
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1373550452
Conflicting classifications of pathogenicity
Health Risk
RS138259600
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144073611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145192716
Conflicting classifications of pathogenicity
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Health Risk
RS200637441
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS60891833
Conflicting classifications of pathogenicity
MECR-related disorder, Inborn genetic diseases, MECR-related disorder
Health Risk
RS750089240
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1239954306
Likely pathogenic
Health Risk
RS1464020122
Likely pathogenic
Health Risk
RS2522278930
Likely pathogenic
Health Risk
RS778879465
Likely pathogenic
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11544658 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1373550452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138259600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144073611 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145192716 | Health Risk | Conflicting classifications of pathogenicity | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS200637441 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS60891833 | Health Risk | Conflicting classifications of pathogenicity | MECR-related disorder, Inborn genetic diseases, MECR-related disorder |
| RS750089240 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1239954306 | Health Risk | Likely pathogenic | — |
| RS1464020122 | Health Risk | Likely pathogenic | — |
| RS2522278930 | Health Risk | Likely pathogenic | — |
| RS778879465 | Health Risk | Likely pathogenic | — |
| RS1057519286 | Health Risk | Pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS1057519287 | Health Risk | Pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS1162224576 | Health Risk | Pathogenic | — |
| RS1171582595 | Health Risk | Pathogenic | — |
| RS1335145792 | Health Risk | Pathogenic | — |
| RS1407096340 | Health Risk | Pathogenic | — |
| RS1574315873 | Health Risk | Pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS1683278500 | Health Risk | Pathogenic | — |
| RS2522410989 | Health Risk | Pathogenic | — |
| RS2522505747 | Health Risk | Pathogenic | — |
| RS2522669795 | Health Risk | Pathogenic | — |
| RS2522684220 | Health Risk | Pathogenic | — |
| RS2522936231 | Health Risk | Pathogenic | — |
| RS368541093 | Health Risk | Pathogenic | — |
| RS752871814 | Health Risk | Pathogenic | — |
| RS761771473 | Health Risk | Pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS765731318 | Health Risk | Pathogenic | — |
| RS779356849 | Health Risk | Pathogenic | — |
| RS756421370 | Health Risk | Pathogenic/Likely pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS759218713 | Health Risk | Pathogenic/Likely pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| RS762913101 | Health Risk | Pathogenic/Likely pathogenic | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |