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MGP005031

UniProt Annotations

Entry Information
Gene Namedimethylglycine dehydrogenase
Protein EntryM2GD_HUMAN
UniProt IDQ9UI17
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI17-1; Sequence=Displayed; Name=2; IsoId=Q9UI17-2; Sequence=VSP_056959, VSP_056960, VSP_056961, VSP_056962; Note=No experimental confirmation available.;
Catalytic ActivityN,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD covalently per monomer.;
DiseaseDMGDH deficiency (DMGDHD) [MIM:605850]: Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. {ECO:0000269|PubMed:11231903}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.
SimilarityBelongs to the GcvT family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitMonomer.
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