Description: Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_013391): 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]. Transcript (Including UTRs) Position: hg19 chr5:78,293,429-78,365,449 Size: 72,021 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr5:78,293,905-78,365,443 Size: 71,539 Coding Exon Count: 16
ID:M2GD_HUMAN DESCRIPTION: RecName: Full=Dimethylglycine dehydrogenase, mitochondrial; EC=1.5.8.4; AltName: Full=ME2GLYDH; Flags: Precursor; CATALYTIC ACTIVITY: N,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. COFACTOR: Binds 1 FAD covalently per monomer. PATHWAY: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2. SUBUNIT: Monomer. 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.
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UI17
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006579 amino-acid betaine catabolic process GO:0019695 choline metabolic process GO:0022900 electron transport chain GO:0042426 choline catabolic process GO:0055114 oxidation-reduction process
US Server
