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 |
|---|---|---|---|
| RS879253826 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253827 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253829 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253830 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253831 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253832 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253833 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253834 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253835 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253838 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253841 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253842 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253843 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253844 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253845 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253846 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253847 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253848 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253849 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253850 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253852 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS886041957 | Health Risk | Pathogenic | — |
| RS886042128 | Health Risk | Pathogenic | — |
| RS887126161 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS1028877309 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS1179778233 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS121918258 | Health Risk | Pathogenic/Likely pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1254433398 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1297307718 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS1319034847 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS143023066 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1437477079 | Health Risk | Pathogenic/Likely pathogenic | 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 |
| RS1446389693 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1476515561 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS147715336 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, MMUT-related disorder |
| RS1554158754 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561959114 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767361855 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767556193 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767612147 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS1767617149 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767682543 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767683356 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2127419415 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS372486357 | Health Risk | Pathogenic/Likely pathogenic | 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 |
| RS398123276 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS727504022 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS750475071 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS750619189 | Health Risk | Pathogenic/Likely pathogenic | 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 |
| RS753564352 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |