MCEE Chromosome 2
Methylmalonyl-CoA epimerase
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What This Gene Does
The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glyoxalase domain containing
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000124370
Associated Conditions (4)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia
Inborn genetic diseases
MCEE-related disorder
Key Variants
RS138436961
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS142838031
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS146573280
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS147401037
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS151148238
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS374147386
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS1321542648
Likely pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS146603886
Likely pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS2465917425
Likely pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS111033538
Pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia, Inborn genetic diseases
Health Risk
RS1359411004
Pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
RS2465931432
Pathogenic
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138436961 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS142838031 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS146573280 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS147401037 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS151148238 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS374147386 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS1321542648 | Health Risk | Likely pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS146603886 | Health Risk | Likely pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS2465917425 | Health Risk | Likely pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS111033538 | Health Risk | Pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia, Inborn genetic diseases |
| RS1359411004 | Health Risk | Pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| RS2465931432 | Health Risk | Pathogenic | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |