Entity Details

Primary name MUTA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP22033
EntryNameMUTA_HUMAN
FullNameMethylmalonyl-CoA mutase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length750
SequenceStatuscomplete
DateCreated1991-08-01
DateModified2021-06-02

Ontological Relatives

GenesMMUT

GO terms

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GOName
GO:0003924 GTPase activity
GO:0004494 methylmalonyl-CoA mutase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009235 cobalamin metabolic process
GO:0009791 post-embryonic development
GO:0019626 short-chain fatty acid catabolic process
GO:0031419 cobalamin binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043547 positive regulation of GTPase activity
GO:0046872 metal ion binding
GO:0050667 homocysteine metabolic process
GO:0072341 modified amino acid binding

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalyticDomainDomain
IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalyticDomainDomain
IPR006158 Cobalamin (vitamin B12)-binding domainDomainDomain
IPR006159 Methylmalonyl-CoA mutase, C-terminalDomainDomain
IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalyticFamilyHomologous superfamily
IPR036724 Cobalamin-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
251000 OMIMMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM)An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00115 CyanocobalaminDrugbanksmall molecule
DB00200 HydroxocobalaminDrugbanksmall molecule

Interactions

4 interactions