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MT000998

UniProt Annotations

Entry Information

Gene Name	dimethylglycine dehydrogenase
Protein Entry	M2GD_HUMAN
UniProt ID	Q9UI17
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	N,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD covalently per monomer.;
Disease	DMGDH 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.
Pathway	Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.
Similarity	Belongs to the GcvT family. {ECO:0000305}.
Subcellular Location	Mitochondrion.
Subunit	Monomer.