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FLASH GENE

Symbol

NOS3

contributors: mct - updated : 03-02-2015

HGNC name	nitric oxide synthase 3 (endothelial cell)
HGNC id	7876

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in squamous hyperplasia, dysplasia and squamous cell carcinoma of the head and neck constitutional   LOH     in atherosclerotic plaques

Susceptibility

coronary spasm placental abruption putative susceptibility factor for late onset Alzheimer disease to embryonic spina bifida myocardial infarction, coronary spasm and preeclampsia to Fabry disease with severe phenotype to hypertension, pregnancy-induced to hypertension resistant to conventional therapy to limb deficiency defects in the presence of maternal smoking to coronary artery disease (CAD) to altered vascular function

Variant & Polymorphism SNP , other	G894T not likely to be involved in atherosclerosis
	E298D variant in hypertension in pregnancy and in lower age at end stage renal disease in PKD1
	Glu 298 ASP in fabry disease with severe phenotype
	SNP increasing the risk of limb deficiency defects in the presence of maternal smoking
	G894T associated to embryonic spina bifida
	intron 4-VNTR and T-786C mutation enhance the inflammatory process in patients with chronic coronary artery disease
	polymorphism 894G>T associated with increased CAD risk
	subjects carrying the rs753482-C genotype express a novel stable truncated form of NOS3 with altered enzymatic activity that influences endothelial function, and associated with altered vascular function

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   both SRC and NOS3 inhibition may be important therapeutic targets to prevent or limit vascular inflammation

ANIMAL & CELL MODELS

mice deficient in endothelial NO synthase (Nos3-/-) show reduced VEGFA-induced mobilization of bone marrow progenitor cells to sites of injury