MCEE: Methylmalonyl-CoA Epimerase
Gene involved in methylmalonyl-CoA metabolism and linked to methylmalonic aciduria
Gene Information Card
| Symbol | MCEE |
|---|---|
| Full Name | Methylmalonyl-CoA Epimerase |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 84693 ncbi.nlm.nih.gov/gene/84693 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q96EY7 |
| OMIM ID | 608419 |
| HGNC ID | 16732 |
| Aliases | MCE, MGC26594 |
Description
The MCEE gene encodes methylmalonyl-CoA epimerase, a mitochondrial enzyme that catalyzes the interconversion of D-methylmalonyl-CoA and L-methylmalonyl-CoA. This reaction is essential for the catabolism of branched-chain amino acids, odd-chain fatty acids, and cholesterol. Mutations in MCEE cause methylmalonic aciduria type cblA-like (MMAA), a disorder of organic acid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Methylmalonic aciduria type cblA-like | Deficiency of methylmalonyl-CoA epimerase leads to accumulation of methylmalonic acid | ClinVar, OMIM |
| Methylmalonic acidemia | Impaired conversion of D- to L-methylmalonyl-CoA disrupts propionate metabolism | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.1 | Medium |
| Brain | 4.5 | Low |
| Skeletal Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocyte line |
| HEK293 | 8.2 | Embryonic kidney |
| K562 | 6.0 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | Rare | Reduced enzyme activity |
| c.394C>T (p.Arg132*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MCEE mutations result in loss of enzyme activity, leading to methylmalonic aciduria.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • methylmalonyl-CoA epimerase activity (GO:0004494) | • mitochondrion (GO:0005739) |
| • propionate catabolic process (GO:0009065) | • short-chain fatty acid catabolic process (GO:0019626) |
Pathways
• Propanoate metabolism (KEGG: hsa00640)
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
Protein Summary
Methylmalonyl-CoA epimerase (MCEE) is a 176-amino acid mitochondrial protein that converts D-methylmalonyl-CoA to L-methylmalonyl-CoA, a substrate for methylmalonyl-CoA mutase. The enzyme is a homodimer and requires no cofactors. Deficiency leads to methylmalonic aciduria, characterized by metabolic acidosis, developmental delay, and failure to thrive.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCEE Knockout HEK293 Cell Line | EDJ-KQ10167 | Human | 84693 | Details Get a Quote |
| MCEE Knockout A-549 Cell Line | EDJ-KQ37274 | Human | 84693 | Details Get a Quote |
| MCEE Knockout HCT 116 Cell Line | EDJ-KQ37275 | Human | 84693 | Details Get a Quote |
| MCEE Knockout HeLa Cell Line | EDJ-KQ37276 | Human | 84693 | Details Get a Quote |
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