MCEE Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MCEE |
| Official Name | methylmalonyl-CoA epimerase [Source:HGNC Symbol;Acc:HGNC:16732] |
| Ensembl ID | ENSG00000124370 |
| Bio databases IDs | |
| Aliases | methylmalonyl-CoA epimerase, glyoxalase domain containing 2, methylmalonyl CoA isomerase |
| Synonyms | 1110007A04RIK, GLOD2, MCE, methylmalonyl-CoA epimerase, MMCE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MCEE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glyoxalase I/type I extradiol dioxygenase/antibiotic resistance protein metal-binding domain
- methylmalonyl-CoA epimerase
- enzyme
- protein binding
- Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily
Pathways
Biological processes and signaling networks where the MCEE gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCEE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- short-chain fatty acid catabolic process
- L-methylmalonyl-CoA metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- methylmalonyl-CoA epimerase activity