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  5. Dimethylglycine dehydrogenase, mitochondrial

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]

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Property Summary

NCBI Gene PubMed Count 22
PubMed Score 22.99
PubTator Score 12.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
breast carcinoma 1614 1.8756666873651E-4
fibroadenoma 557 0.0430821421979191
Disease Target Count
DMGDH deficiency 1

Expression

  Differential Expression (2)

Disease log2 FC p
breast carcinoma -1.100 0.000
fibroadenoma -1.200 0.043

Synonym

Accession Q9UI17 B2RBN0 B4E1J9
Symbols DMGDHD
ME2GLYDH

Gene

DMGDH

PANTHER Protein Class (2)

PDB

5L46  

  Ortholog (9)

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

 GO Function (3)

 GO Component (1)

 GO Process (4)

 Compartment GO Term (20)

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 IMPC Term (2)

 MGI Term (2)

 GWAS Trait (5)

 HCA RNA Cell Line (39)

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Pathway (21)

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 UniProt Keyword (12)

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Gene RIF (9)

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

AA Sequence 

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
//

Text Mined References (24)

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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