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FLASH GENE
Symbol MTHFR contributors: SGE - updated : 29-07-2010
HGNC name methylenetetrahydrofolate reductase (NAD(P)H)
HGNC id 7436
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal catalytic domain
    • secondary structure FAD moncovalently bound
    conjugated FlavoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mthfr (90.8pc)
    homolog to rattus Mthfr (89.1pc)
    Homologene
    FAMILY
  • methylenetetrahydrofolate reductase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • reducing 5-10 methylene THF to 5 methyl-THF for methionine biosynthesis (oxydoreductase)
  • playing a role in DNA methylation, synthesis, and repair (Yuan 2007)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    folate metabolism, methionine biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH
  • FAD
    • protein
    cell & other
    REGULATION
    Other allosterically regulated by S-adenosylmethionine
    ASSOCIATED DISORDERS
    corresponding disease(s) MTHFR , NTDS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    may protect against the development of hepatocellular carcinoma (Yuan 2008)
    Susceptibility
  • to schizophrenia (rs801131)
  • to increased mortality risk in men in middle and old age
  • to recurrent abortus in early pregnancy
  • to cardiovascular disease (CAD)
    • Variant & Polymorphism SNP , other
  • common variant putatively involved in occlusive vascular disease, neural tube defects, colon cancer and adult acute leukemia, cardiovascular disease, 677CT/1298CC or 677TT/1298CC genotypes, 677CT/1298AC
  • polymorphisms increasing mortality risk in men in middle and old age
  • maternal polymorphisms 677C-T and 1298A-C of MTHFR and risk for Down syndrome
  • TT genotype was associated with an increased risk of CAD
  • polymorphism associated with risk of metabolic syndrome in patients with schizophrenia (Van Winkel 2010)
  • SNp is associated with blood pressure and/or hypertension in the Japanese (Takeuchi 2010)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS