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Gene information for DMGDH (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID29958
Official gene symbolDMGDH
Full namedimethylglycine dehydrogenase
Aliases,DMGDHD,ME2GLYDH,
Gene summaryThis 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]
LocationChromosome: 5   Locus: 5q14.1
Gene position78365449 - 78293429  Map Viewer
Gene orientationminus
Gene size72021 bp
Gene sequence
OMIM ID605849