MMUT
Chr 6ARmethylmalonyl-CoA mutase
Also known as: MCM, MUT
The MMUT gene encodes methylmalonyl-CoA mutase, a vitamin B12-dependent mitochondrial enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in the tricarboxylic acid cycle. Mutations cause methylmalonic aciduria (mut0 type), an autosomal recessive disorder typically presenting in the neonatal period with metabolic acidosis, hyperammonemia, and failure to thrive. The gene shows tolerance to loss-of-function variants (LOEUF 1.232), consistent with recessive inheritance where heterozygous carriers are unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MMUT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
NOT YET RECRUITINGLong-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools