NCBI Description
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]
Uniprot Description
DMGDH: Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD). 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. Belongs to the GcvT family.
Protein type: Oxidoreductase; EC 1.5.8.4; Mitochondrial; Amino Acid Metabolism - glycine, serine and threonine
Chromosomal Location of Human Ortholog: 5q14.1
Cellular Component: mitochondrial matrix
Molecular Function: electron carrier activity; dimethylglycine dehydrogenase activity
Biological Process: glycine metabolic process; choline metabolic process; betaine catabolic process
Disease: Dimethylglycine Dehydrogenase Deficiency
Product Notes
The Hamster DMGDH dmgdh (Catalog #
AAA9928151) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9928151 ELISA Kit recognizes Hamster DMGDH.
It is sometimes possible for the material contained within the vial of
"Dimethylglycine Dehydrogenase, Mitochondrial (DMGDH), ELISA Kit" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
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