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 |
|---|---|---|---|
| RS1313120333 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1346775255 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia |
| RS1368171478 | Health Risk | Likely pathogenic | — |
| RS1467959226 | Health Risk | Likely pathogenic | — |
| RS147094927 | Health Risk | Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS1554158325 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1554158372 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1554159871 | Health Risk | Likely pathogenic | — |
| RS1554159942 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1554160198 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561957527 | Health Risk | Likely pathogenic | — |
| RS1561958979 | Health Risk | Likely pathogenic | — |
| RS1581832011 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767133183 | Health Risk | Likely pathogenic | Methylmalonic acidemia, Methylmalonic acidemia |
| RS1767238331 | Health Risk | Likely pathogenic | — |
| RS1767239952 | Health Risk | Likely pathogenic | — |
| RS1767240242 | Health Risk | Likely pathogenic | — |
| RS1767240499 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767243474 | Health Risk | Likely pathogenic | — |
| RS1767284074 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767285621 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767285693 | Health Risk | Likely pathogenic | — |
| RS1767289269 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767368923 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767442652 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767478925 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767479902 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767549304 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767555126 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767558268 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767558588 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767615100 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767683238 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767726007 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767732703 | Health Risk | Likely pathogenic | — |
| RS1767737608 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767739242 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1767780776 | Health Risk | Likely pathogenic | — |
| RS1767786464 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS201741770 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2127415155 | Health Risk | Likely pathogenic | — |
| RS2127417136 | Health Risk | Likely pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2127418704 | Health Risk | Likely pathogenic | — |
| RS2127420084 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481294162 | Health Risk | Likely pathogenic | — |
| RS2481301140 | Health Risk | Likely pathogenic | — |
| RS2481311030 | Health Risk | Likely pathogenic | — |
| RS2481314545 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481314947 | Health Risk | Likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS2481320324 | Health Risk | Likely pathogenic | — |