MCEE methylmalonyl-CoA epimerase
Gene ID: 84693, updated on 19-Sep-2024Gene type: protein coding
Also known as: MCE; MMCE; GLOD2
- See all available tests in GTR for this gene
- Go to complete Gene record for MCEE
- Go to Variation Viewer for MCEE variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 2p13.3
- Sequence:
- Chromosome: 2; NC_000002.12 (71109687..71130229, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MCEE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZJU-CGGM Database
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