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FLASH GENE

Symbol

SERPINE1

contributors: mct/npt - updated : 28-08-2016

HGNC name	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
HGNC id	8583

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PAI1 , TRBR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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