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FLASH GENE
Symbol SHMT1 contributors: mct - updated : 25-08-2012
HGNC name serine hydroxymethyltransferase 1 (soluble)
HGNC id 10850
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
in Smith-Magenis syndrome
tumoral     --other  
aberrantly expressed in breast and ovarian cancer (
Susceptibility to Down syndrome in young woman (DS)
Variant & Polymorphism SNP
  • protective role for the genotypes SHMT1 CC and CT (C1420T) on maternal risk for DS, but he concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT1
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS