DMGDH gene

dimethylglycine dehydrogenase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Dimethylglycine dehydrogenase deficiency

From UniProt:

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. [MIM:605850]

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1

Molecular Location: base pairs 78,997,564 to 79,069,674 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q14.1, which is the long (q) arm of chromosome 5 at position 14.1
  • DMGDHD
  • ME2GLYDH