Entity Details

Primary name DMGDH
Entity type gene
Source Source Link

Details

PrimaryID29958
RefseqGeneNG_012164
SymbolDMGDH
Namedimethylglycine dehydrogenase
Chromosome5
Location5q14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-03-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsM2GD_HUMAN

GO terms

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GOName
GO:0003723 RNA binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006579 amino-acid betaine catabolic process
GO:0009055 electron transfer activity
GO:0016491 oxidoreductase activity
GO:0019695 choline metabolic process
GO:0042426 choline catabolic process
GO:0047865 dimethylglycine dehydrogenase activity

Diseases

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Disease IDSourceNameDescription
605850 OMIMDMGDH 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
DMGDHH1-1BioGRID, IntAct30021884 details
DMGDHXPNPEP1BioGRID26344197 details
DMGDHCUL4ABioGRID32235678 details