MMUT methylmalonyl-CoA mutase
Gene ID: 4594, updated on 3-Apr-2024Gene type: protein coding
Also known as: MCM; MUT
- See all available tests in GTR for this gene
- Go to complete Gene record for MMUT
- Go to Variation Viewer for MMUT variants
Summary
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. GeneReviews: Not available | |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | See labs |
Genomic context
- Location:
- 6p12.3
- Sequence:
- Chromosome: 6; NC_000006.12 (49430360..49463253, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MMUT 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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