DMGDH, Official Symbol DMGDHprovided by HGNC Official Full Name dimethylglycine dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:24475 See related Ensembl:ENSG00000132837 MIM:605849; AllianceGenome:HGNC:24475 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMGDHD; ME2GLYDH 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in kidney (RPKM 31.5), liver (RPKM 24.3) and 1 other tissue See more Orthologs mouse all