MCEE
Chr 2ARmethylmalonyl-CoA epimerase
Also known as: GLOD2, MCE, MMCE
The protein catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids and odd chain-length fatty acids. Mutations cause methylmalonyl-CoA epimerase deficiency, which presents as mild to moderate methylmalonic aciduria with autosomal recessive inheritance. This gene shows relatively low constraint to loss-of-function variation compared to other genes associated with metabolic disorders.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
156 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 8 | 0 | 13 |
Likely Pathogenic | 3 | 0 | 4 | 0 | 7 |
VUS | 2 | 38 | 7 | 0 | 47 |
Likely Benign | 1 | 1 | 16 | 42 | 60 |
Benign | 0 | 3 | 16 | 0 | 19 |
Conflicting | — | 6 | |||
| Total | 11 | 42 | 51 | 42 | 152 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MCEE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools