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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]
MMUT (Methylmalonyl-CoA Mutase) is a Protein Coding gene. Diseases associated with MMUT include Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency and Isolated Methylmalonic Acidemia. Among its related pathways are HIV Life Cycle and Defective MMAA causes methylmalonic aciduria type cblA. An important paralog of this gene is MMAA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003924 | GTPase activity | IDA | 20876572 |
GO:0004494 | methylmalonyl-CoA mutase activity | IBA,IMP | 27167370 |
GO:0005515 | protein binding | IPI | 20876572 |
GO:0016853 | isomerase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 28943303 |
GO:0005739 | mitochondrion | TAS,IDA | 28943303 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Diseases of metabolism | ||
3 | Defective MMAA causes methylmalonic aciduria type cblA | ||
4 | Metabolism of water-soluble vitamins and cofactors | ||
5 | Mitochondrial Fatty Acid Beta-Oxidation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009235 | cobalamin metabolic process | TAS | -- |
GO:0009791 | post-embryonic development | IEA | -- |
GO:0019626 | short-chain fatty acid catabolic process | TAS | -- |
GO:0043547 | positive regulation of GTPase activity | IDA | 20876572 |
GO:0050667 | homocysteine metabolic process | IDA | 20031578 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Methylmalonyl-CoA |
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104809-02-1 |
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R-Methylmalonyl-CoA |
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73173-92-9 |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MUT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MUT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MUT 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MUT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MUT 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mut 30 31 |
|
OneToOne | |
Mmut 17 |
|
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Rat (Rattus norvegicus) |
Mammalia | Mut 30 |
|
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Chicken (Gallus gallus) |
Aves | MUT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MUT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mut 30 |
|
||
Str.10358 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4891 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mut 30 31 |
|
OneToOne | |
Dr.7055 30 |
|
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Worm (Caenorhabditis elegans) |
Secernentea | mmcm-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4477 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
836528 | Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 49,459,144(-) |
CG/C NM_000255.4(MMUT):c.322del (p.Arg108fs) |
FRAMESHIFT | |
841103 | Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 49,440,272(-) |
TCCTCTGTCATGGC/T NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs) |
FRAMESHIFT | |
842894 | Uncertain Significance: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 49,458,038(-) |
C/T NM_000255.4(MMUT):c.406G>A (p.Val136Ile) |
MISSENSE | |
845401 | Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 49,441,883(-) |
G/A NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter) |
NONSENSE | |
851451 | Likely Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 49,436,522(-) |
T/C NM_000255.4(MMUT):c.1957-899A>G |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10654n54 | CNV | gain | 21841781 |
dgv10655n54 | CNV | gain | 21841781 |
dgv1768e212 | CNV | gain | 25503493 |
dgv5960n100 | CNV | gain | 25217958 |
esv3608946 | CNV | gain | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency |
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isolated methylmalonic acidemia |
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methylmalonic acidemia |
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peroxisome biogenesis disorder 8a |
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peroxisome biogenesis disorder 8b |
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