Gene: DMGDH

Alternate names for this Gene: 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. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: dimethylglycine dehydrogenase

Type of Gene: protein-coding

rs17223387 in DMGDH gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908331 in DMGDH gene and Dimethylglycine Dehydrogenase Deficiency PMID 27486859 2016 Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant.

PMID 11231903 2001 Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

rs3797537 in DMGDH gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs17823642 in DMGDH gene and Insulin Sensitivity Measurement PMID 23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.

rs28326 in DMGDH gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11951068 in DMGDH gene and Selenium measurement PMID 25343990 2015 Genome-wide association study of selenium concentrations.

rs921943 in DMGDH gene and Serum selenium measurement PMID 23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.