MCEE

Chr 2AR

methylmalonyl-CoA epimerase

Also known as: GLOD2, MCE, MMCE

NCBI Gene: 84693 ENSG00000124370 UniProt: Q96PE7 OMIM: 608419

The protein catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids and odd chain-length fatty acids. Mutations cause methylmalonyl-CoA epimerase deficiency, which presents as mild to moderate methylmalonic aciduria with autosomal recessive inheritance. This gene shows relatively low constraint to loss-of-function variation compared to other genes associated with metabolic disorders.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Methylmalonyl-CoA epimerase deficiencyMIM #251120

Clinical highlights

Gene-disease validity (ClinGen)

methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MCEE