Tbio | Dimethylglycine dehydrogenase, mitochondrial |
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]
Comments
Disease | Target Count | P-value |
---|---|---|
breast carcinoma | 1614 | 1.8756666873651E-4 |
fibroadenoma | 557 | 0.0430821421979191 |
Disease | Target Count |
---|---|
Dimethylglycine Dehydrogenase Deficiency | 1 |
Disease | Target Count |
---|---|
DMGDH deficiency | 1 |
Disease | log2 FC | p |
---|---|---|
breast carcinoma | -1.100 | 0.000 |
fibroadenoma | -1.200 | 0.043 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Opossum | OMA EggNOG Inparanoid |
Platypus | OMA EggNOG Inparanoid |
Chicken | OMA EggNOG Inparanoid |
Anole lizard | OMA EggNOG Inparanoid |
Xenopus | OMA EggNOG Inparanoid |
PMID | Text |
---|---|
26675765 | In agreement with previous studies, we show that the genetic variant rs921943 in DMGDH is significantly associated with selenium status in United Kingdom pregnant women. |
25795213 | Genetic variation of DMGDH was associated with higher plasma insulin, increased insulin resistance and increased risk of incident diabetes. |
20877624 | Observational study of gene-disease association. (HuGE Navigator) |
20662904 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
20634891 | Observational study of gene-disease association. (HuGE Navigator) |
20628086 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
19913121 | Observational study of gene-disease association. (HuGE Navigator) |
19048631 | Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
18937046 | analysis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R |
MLRPGAQLLRGLLLRSCPLQGSPGRPRSVCGREGEEKPPLSAETQWKDRAETVIIGGGCVGVSLAYHLAK 1 - 70 AGMKDVVLLEKSELTAGSTWHAAGLTTYFHPGINLKKIHYDSIKLYEKLEEETGQVVGFHQPGSIRLATT 71 - 140 PVRVDEFKYQMTRTGWHATEQYLIEPEKIQEMFPLLNMNKVLAGLYNPGDGHIDPYSLTMALAAGARKCG 141 - 210 ALLKYPAPVTSLKARSDGTWDVETPQGSMRANRIVNAAGFWAREVGKMIGLEHPLIPVQHQYVVTSTISE 211 - 280 VKALKRELPVLRDLEGSYYLRQERDGLLFGPYESQEKMKVQDSWVTNGVPPGFGKELFESDLDRIMEHIK 281 - 350 AAMEMVPVLKKADIINVVNGPITYSPDILPMVGPHQGVRNYWVAIGFGYGIIHAGGVGKYLSDWILHGEP 351 - 420 PFDLIELDPNRYGKWTTTQYTEAKARESYGFNNIVGYPKEERFAGRPTQRVSGLYQRLESKCSMGFHAGW 421 - 490 EQPHWFYKPGQDTQYRPSFRRTNWFEPVGSEYKQVMQRVAVTDLSPFGKFNIKGQDSIRLLDHLFANVIP 491 - 560 KVGFTNISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSELHDLRWIEEEAVKGGYDVEIKNITDELGVL 561 - 630 GVAGPQARKVLQKLTSEDLSDDVFKFLQTKSLKVSNIPVTAIRISYTGELGWELYHRREDSVALYDAIMN 631 - 700 AGQEEGIDNFGTYAMNALRLEKAFRAWGLEMNCDTNPLEAGLEYFVKLNKPADFIGKQALKQIKAKGLKR 701 - 770 RLVCLTLATDDVDPEGNESIWYNGKVVGNTTSGSYSYSIQKSLAFAYVPVQLSEVGQQVEVELLGKNYPA 771 - 840 VIIQEPLVLTEPTRNRLQKKGGKDKT 841 - 866 //
PMID | Year | Title |
---|---|---|
26675765 | 2016 | Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women. |
25795213 | 2015 | Dimethylglycine Deficiency and the Development of Diabetes. |
25343990 | 2015 | Genome-wide association study of selenium concentrations. |
24816252 | 2014 | An atlas of genetic influences on human blood metabolites. |
24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
23720494 | 2013 | Genome-wide association study identifies loci affecting blood copper, selenium and zinc. |
23378610 | 2013 | Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. |
22658674 | 2012 | Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. |
20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
20662904 | 2010 | Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. |
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