DMGDH Chromosome 5
Dimethylglycine dehydrogenase
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What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000132837
Associated Conditions (1)
Dimethylglycine dehydrogenase deficiency
Key Variants
RS139044238
Conflicting classifications of pathogenicity
Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
Health Risk
RS56774046
Conflicting classifications of pathogenicity
Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
Health Risk
RS121908331
Likely pathogenic
Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139044238 | Health Risk | Conflicting classifications of pathogenicity | Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency |
| RS56774046 | Health Risk | Conflicting classifications of pathogenicity | Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency |
| RS121908331 | Health Risk | Likely pathogenic | Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency |