MMUT Chromosome 6
Methylmalonyl-CoA mutase
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What This Gene Does
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 (18)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
MMUT-related disorder
Methylmalonic acidemia
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
METHYLMALONIC ACIDURIA
mut(0) TYPE
mut(-) TYPE
Ovarian serous cystadenocarcinoma
Abnormality of metabolism/homeostasis
Likely inborn error of metabolism
Neonatal encephalopathy
See cases
Lung cancer
Methylmalonic aciduria
Familial cancer of breast
Key Variants
RS1085307929
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS115923556
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder
Health Risk
RS1184586094
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS1369724342
Conflicting classifications of pathogenicity
Methylmalonic acidemia, Methylmalonic acidemia
Health Risk
RS137958217
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS138374956
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder
Health Risk
RS140727018
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS145682249
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS1467385866
Conflicting classifications of pathogenicity
Health Risk
RS148091558
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder
Health Risk
RS148331800
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Health Risk
RS150095448
Conflicting classifications of pathogenicity
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Health Risk
All Variants (368)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1085307929 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS115923556 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder |
| RS1184586094 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1369724342 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia, Methylmalonic acidemia |
| RS137958217 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS138374956 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder |
| RS140727018 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS145682249 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1467385866 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148091558 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder |
| RS148331800 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS150095448 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS150642856 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561959894 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS182726681 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS188766510 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS199555550 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS199655896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199992904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200055428 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS200908035 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder |
| RS201311681 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481326733 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2481347515 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2481347735 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481347836 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS368746965 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS369131814 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS541001298 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B |
| RS547709692 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS563776413 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS747589392 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS748225883 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751804284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753461919 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS757000253 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS766999822 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS772652266 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS772936850 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS777167901 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS864309738 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253837 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS886061560 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1164271240 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS1194327802 | Health Risk | Likely pathogenic | — |
| RS121918250 | Health Risk | Likely pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS121918252 | Health Risk | Likely pathogenic | METHYLMALONIC ACIDURIA, mut(-) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918257 | Health Risk | Likely pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1223169999 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1289671563 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Ovarian serous cystadenocarcinoma, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |