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MGP001986

UniProt Annotations

Entry Information
Gene Namemethylmalonyl CoA mutase
Protein EntryMUTA_HUMAN
UniProt IDP22033
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity(R)-methylmalonyl-CoA = succinyl-CoA.
CofactorName=adenosylcob(III)alamin; Xref=ChEBI:CHEBI:18408;
DiseaseMethylmalonic aciduria type mut (MMAM) [MIM:251000]: 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. {ECO:0000269|PubMed:10923046, ECO:0000269|PubMed:11350191, ECO:0000269|PubMed:1346616, ECO:0000269|PubMed:1351030, ECO:0000269|PubMed:15643616, ECO:0000269|PubMed:15781192, ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:1670635, ECO:0000269|PubMed:1977311, ECO:0000269|PubMed:7909321, ECO:0000269|PubMed:7912889, ECO:0000269|PubMed:9285782, ECO:0000269|PubMed:9452100, ECO:0000269|PubMed:9554742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the degradation of several amino acids, odd- chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.
SimilarityBelongs to the methylmalonyl-CoA mutase family. {ECO:0000305}.
SimilarityContains 1 B12-binding domain. {ECO:0000255|PROSITE- ProRule:PRU00666}.
Subcellular LocationMitochondrion matrix.
SubunitHomodimer.
Web ResourceName=Wikipedia; Note=Methylmalonyl coenzyme A mutase entry; URL="http://en.wikipedia.org/wiki/Methylmalonyl_Coenzyme_A_mutase";
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