Entrez gene ID | | 29958 |
Official gene symbol | | DMGDH |
Full name | | dimethylglycine dehydrogenase |
Aliases | | ,DMGDHD,ME2GLYDH, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q14.1 |
Gene position | | 78365449 - 78293429 Map Viewer |
Gene orientation | | minus |
Gene size | | 72021 bp |
Gene sequence |
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OMIM ID | | 605849 |
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