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 |
|---|---|---|---|
| RS746556715 | Health Risk | Pathogenic | Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS747777227 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS747897332 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS748129702 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS751624492 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS752898811 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS753288303 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS754369323 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS754740382 | Health Risk | Pathogenic | — |
| RS758008398 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS758577372 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS760782399 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS761477436 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS761525156 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS76175991 | Health Risk | Pathogenic | — |
| RS761773115 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS764173488 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS764189353 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS766219320 | Health Risk | Pathogenic | — |
| RS766420051 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS768608311 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS770466993 | Health Risk | Pathogenic | Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS770810987 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS771021560 | Health Risk | 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 |
| RS771542321 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS772552898 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS772609811 | Health Risk | Pathogenic | — |
| RS774159791 | Health Risk | Pathogenic | Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS776176938 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS777296241 | Health Risk | Pathogenic | — |
| RS777758903 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS778702777 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS779331475 | Health Risk | Pathogenic | — |
| RS779990936 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS780068818 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS780283588 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS781501004 | Health Risk | Pathogenic | — |
| RS796052004 | Health Risk | Pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS796052005 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS796052006 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Familial cancer of breast |
| RS796052008 | Health Risk | Pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS863224898 | Health Risk | Pathogenic | — |
| RS864309734 | Health Risk | 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 |
| RS869320653 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253820 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS879253821 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253822 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253823 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253824 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS879253825 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |