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MMUT methylmalonyl-CoA mutase

Gene ID: 4594, updated on 3-Apr-2024
Gene type: protein coding
Also known as: MCM; MUT


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

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 deficiencySee labs

Genomic context

Chromosome: 6; NC_000006.12 (49430360..49463253, complement)
Total number of exons:


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