Dimethylglycine dehydrogenase, mitochondrial
Function
Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.
Involvement in disease
DMGDH deficiency
DMGDHD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.
Sequence Similarities
Belongs to the GcvT family.
Cellular localization
- Mitochondrion
Alternative names
ME2GLYDH, DMGDH