• Gene id: 29958

Gene Summary

• Gene Symbol: DMGDH   Gene   UCSC   Ensembl
• Aliases: DMGDHD, ME2GLYDH
• Gene name: dimethylglycine dehydrogenase
• Alternate names: dimethylglycine dehydrogenase, mitochondrial,
• Gene location: 5q14.1 (79069673: 78997563)     Exons: 18     NC_000005.10
• Gene summary(Entrez): 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 a
• OMIM: 0

Protein Summary

• Protein general information: Q9UI17  
  • Name: Dimethylglycine dehydrogenase, mitochondrial (EC 1.5.8.4) (ME2GLYDH)
  • Length: 866  
  • Mass: 96811
• Sequence:

  MLRPGAQLLRGLLLRSCPLQGSPGRPRSVCGREGEEKPPLSAETQWKDRAETVIIGGGCVGVSLAYHLAKAGMKD
  VVLLEKSELTAGSTWHAAGLTTYFHPGINLKKIHYDSIKLYEKLEEETGQVVGFHQPGSIRLATTPVRVDEFKYQ
  MTRTGWHATEQYLIEPEKIQEMFPLLNMNKVLAGLYNPGDGHIDPYSLTMALAAGARKCGALLKYPAPVTSLKAR
  SDGTWDVETPQGSMRANRIVNAAGFWAREVGKMIGLEHPLIPVQHQYVVTSTISEVKALKRELPVLRDLEGSYYL
  RQERDGLLFGPYESQEKMKVQDSWVTNGVPPGFGKELFESDLDRIMEHIKAAMEMVPVLKKADIINVVNGPITYS
  PDILPMVGPHQGVRNYWVAIGFGYGIIHAGGVGKYLSDWILHGEPPFDLIELDPNRYGKWTTTQYTEAKARESYG
  FNNIVGYPKEERFAGRPTQRVSGLYQRLESKCSMGFHAGWEQPHWFYKPGQDTQYRPSFRRTNWFEPVGSEYKQV
  MQRVAVTDLSPFGKFNIKGQDSIRLLDHLFANVIPKVGFTNISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSE
  LHDLRWIEEEAVKGGYDVEIKNITDELGVLGVAGPQARKVLQKLTSEDLSDDVFKFLQTKSLKVSNIPVTAIRIS
  YTGELGWELYHRREDSVALYDAIMNAGQEEGIDNFGTYAMNALRLEKAFRAWGLEMNCDTNPLEAGLEYFVKLNK
  PADFIGKQALKQIKAKGLKRRLVCLTLATDDVDPEGNESIWYNGKVVGNTTSGSYSYSIQKSLAFAYVPVQLSEV
  GQQVEVELLGKNYPAVIIQEPLVLTEPTRNRLQKKGGKDKT

• Structural information:
  • Interpro: IPR006076  IPR036188  IPR032503  IPR013977  IPR006222   IPR029043  IPR027266  
  • PDB: 5L46
  • PDBsum: 5L46
  • STRING: ENSP00000255189
• Other Databases: GeneCards:  DMGDH  Malacards:  DMGDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047865	dimethylglycine dehydrogenase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0047865	dimethylglycine dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042426	choline catabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0006579	amino-acid betaine catabolic process	IEA	biological process
GO:0019695	choline metabolic process	NAS	biological process
GO:0009055	electron transfer activity	NAS	molecular function
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0047865	dimethylglycine dehydrogenase activity	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0042426	choline catabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Dimethylglycine dehydrogenase deficiency	KEGG:H01003
Dimethylglycine dehydrogenase deficiency	KEGG:H01003
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq