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FLASH GENE
Symbol SERPINE1 contributors: mct/npt - updated : 28-08-2013
HGNC name serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
HGNC id 8583
ASSOCIATED DISORDERS
corresponding disease(s) PAI1 , TRBR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
by demethylation in oral squamous cell carcinomas but also normal oral mucosa (Gao 2010)
Susceptibility
  • contributor in association with ITGB3 in susceptibility to myocardial infarction in Finnish population (see ITGB3)
  • to meningococcal sepsis and to bleeding diathesis
  • to thrombosis in vessels of internal organs
  • to preterm delivery
  • Variant & Polymorphism SNP , other
  • 4G/4G homozygosity, risk factor for severe preeclampsia and thrombosis in vessels of internal organs
  • 4G/5G risk factor for deep venous thrombosis (in subjects with other thrombophilic defects)
  • polymorphisms protecting against preterm delivery
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transient impaired placental morphology in Pai1-deficient mice that is then normalized, leading to normal embryonic development