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 |
|---|---|---|---|
| RS2481320629 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481326703 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481326952 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481329629 | Health Risk | Likely pathogenic | — |
| RS2481333667 | Health Risk | Likely pathogenic | — |
| RS2481334231 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481339111 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481343923 | Health Risk | Likely pathogenic | — |
| RS2481343980 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481347532 | Health Risk | Likely pathogenic | — |
| RS2481347699 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481349847 | Health Risk | Likely pathogenic | — |
| RS368790885 | Health Risk | Likely pathogenic | — |
| RS483352778 | Health Risk | Likely pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS565348836 | Health Risk | 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 |
| RS727504020 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS748358807 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS750583669 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS755077681 | Health Risk | Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS756225782 | Health Risk | Likely pathogenic | — |
| RS761129296 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS764347583 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS766721811 | Health Risk | Likely pathogenic | — |
| RS767593892 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS769348060 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS772660572 | Health Risk | Likely pathogenic | — |
| RS772888575 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS776400008 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS776430285 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS780387525 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder |
| RS796052007 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS796052009 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS864309736 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS866728229 | Health Risk | Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS879253836 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS941483851 | Health Risk | Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS950211877 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency |
| RS1026703654 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1050465802 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1064793768 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1064796328 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1085308002 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1183076483 | Health Risk | Pathogenic | — |
| RS1189219556 | Health Risk | Pathogenic | — |
| RS1192889987 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS12175488 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918248 | Health Risk | Pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918249 | Health Risk | Pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918251 | Health Risk | Pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS121918253 | Health Risk | Pathogenic | METHYLMALONIC ACIDURIA, mut(-) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |