Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DMGDH contributors: mct - updated : 07-04-2020
HGNC name dimethylglycine dehydrogenase
HGNC id 24475
Corresponding disease
DMGDHD dimethylglycine dehydrogenase deficiency
Location 5q14.1      Physical location : 78.293.429 - 78.365.449
Synonym symbol(s) M2GD, DMGDHD, ME2GLYDH
EC.number 1.5.99.2/1.5.8.4
DNA
TYPE functioning gene
STRUCTURE 72.11 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3173 - 866 - 2015 25795213
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 43AA leader peptide, N terminus
  • FAD dependent oxidoreductase
  • folate-binding domain
  • a C-terminal barrel domain
  • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to rattus Dmgdh (86 pc)
    intraspecies homolog to SARDH
    Homologene
    FAMILY
  • Thi4 family
  • gcvT (Glycine cleavage T protein, aminomethyl transferase) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • catalyzing the oxidative demethylation of dimethylglycine to form sarcosine
  • playing a role in choline catabolism in the liver
  • mitochondrial enzyme that catalyzes the oxidative demethylation of dimethylglycine to sarcosine
  • plays a prominent role in choline and 1-carbon metabolism
  • mitochondrial enzyme which plays an important role in the utilization of methyl groups derived from choline
  • is a flavin adenine dinucleotide (FAD)- and tetrahydrofolate (THF)-dependent, mitochondrial matrix enzyme taking part in choline degradation, one-carbon metabolism and electron transfer to the respiratory chain
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    requires flavin adenine dinucleotide (FAD)
    protein
  • its expression suppresses metastasis through the AKT1 signaling pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DMGDHD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in hepatocellular carcinoma
    constitutional       loss of function
    in diabetes development
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P
    Marker
  • is a potential valuable biomarker for both diagnosis and prognosis for HCC (hepatocellular carcinoma)
  • Therapy target
    ANIMAL & CELL MODELS