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FLASH GENE
Symbol MTHFD1 contributors: mct/npt/pgu - updated : 19-09-2012
HGNC name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
HGNC id 7432
ASSOCIATED DISORDERS
corresponding disease(s) MTHFD1D
Susceptibility
  • to neural tube defect and spina bifida, folate-dependent
  • to abdominal aortic aneurysm
  • to congenital heart defects (CHD)
  • to bipolar disorder and schizophrenia
  • to early onset Alzheimer disease
  • Variant & Polymorphism other
  • maternal genotype QQ increasing the risk of neural tube defect-affected pregnancy
  • R653Q increases the maternal risk for neural tube defects
  • Arg653Gln polymorphism decreases enzyme stability and increases risk for CHD
  • G1958A A allele might be a weak risk factor for early onset Alzheimer disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS