rs1349946640
This variant is located in the MMUT gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout MMUT
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]
View all MMUT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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