NOS3


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NOS3

A gene on chromosome 7q36 that encodes endothelial nitric oxide synthase (eNOS), a small molecule implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. eNOS is a critical mediator of cardiovascular homeostasis that regulates the diameter of blood vessels and keeps vascular proliferation and apoptosis in check. It is upregulated by dynamin, porin and soluble guanylyl cyclase, and downregulated by interactions with Hsp90 and Cav-1 in the Golgi and by NOSIP and NOSTRIN at the plasma membrane. NOS3 is also a less preferred gene symbol for what is now designated as NANOS3, see there.
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These findings are in agreement with our data suggesting that genetic defects in the NOS3 gene may be useful markers of risk for features of the metabolic syndrome, such as dyslipidemia and insulin resistance.
22) also reported an association between NOS3 SNPs and metabolic syndrome, but in hypertensive patients.
At variance with our study, the majority of published studies reporting association between NOS3 gene variants and features of the metabolic syndrome have used several single markers (SNPs) to characterize the genetic architecture.
In summary, our results suggest that genetic variation at the NOS3 locus may increase an individual's susceptibility to certain components of the metabolic syndrome, specifically insulin resistance, hypertriglyceridemia, and low HDL-cholesterol concentrations.
Association of NOS3 gene with metabolic syndrome in hypertensioe patients.
3] Human gene: NOS3, nitric oxide synthase 3 (endothelial cell).
14) showed a relationship between C mutant allele in the NOS3 promoter region and coronary spasm.
The results of the present study indicate that the prevalence of the T786C polymorphism appears different in Italian compared with Japanese populations; the same is true for the more well-known polymorphism in exon 7 of the NOS3 gene that encodes the Glu298Asp polymorphism in the protein.
On the other hand, the T786C polymorphism has been demonstrated to suppress NOS3 gene transcription (23).
In conclusion, our study has identified an association between moderate to severe ICA stenosis and the T786C polymorphism in the NOS3 gene.
No association between Glu/Asp polymorphism of NOS3 and ischemic stroke.