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FLASH GENE
Symbol BHMT contributors: mct - updated : 07-04-2020
HGNC name betaine-homocysteine methyltransferase
HGNC id 1047
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in hepatocellular carcinoma associated with poor prognosis
tumoral       loss of function
transcription variant of exon 4 produces a loss of function of BHMT in human hepatocarcinoma
Susceptibility
  • to placental abruption
  • to Neural tube defects (NTD)
  • to variability of efficacy of oral folate therapy in patients with hyperhomocysteinemia
  • Variant & Polymorphism other
  • (742G >A) polymorphism associated to increased risk for placental abruption
  • BHMT, rs763726268, is a components of NTD risk
  • association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia
  • Candidate gene candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P
    Marker
  • lower levels of BHMT and CBS methylation are all predictors of failure in folic acid therapy for HHCY (hyperhomocysteinemia)
  • BHMT could be served as a potential prognostic marker for HCC patients
  • is a specific and sensitive blood marker for acute liver injury
  • Therapy target
    ANIMAL & CELL MODELS
  • Bhmt-/- mice maintained on a control diet had elevated concentrations of homocysteine, reduced total brain magnetic resonance imaging (MRI) volume, as well as impaired reference and short-term memories