This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Subcellular Location:
Mitochondrion.
DISEASE:
Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a 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.
Similarity:
Belongs to the GcvT family.
SWISS:
Q9UI17
Gene ID:
29958
Database links:
Entrez Gene: 29958 Human
Entrez Gene: 504453 Cow
Entrez Gene: 488935 Dog
Entrez Gene: 100724353 Guinea pig
Entrez Gene: 100073267 Horse
Entrez Gene: 74129 Mouse
Entrez Gene: 100525563 Pig
Entrez Gene: 100340207 Rabbit
Entrez Gene: 245961 Rat
Omim: 605849 Human
SwissProt: Q9UI17 Human
SwissProt: Q9DBT9 Mouse
SwissProt: Q63342 Rat
Unigene: 655653 Human
Unigene: 21789 Mouse
Unigene: 3646 Rat
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