NOS3 nitric oxide synthase 3

Gene ID: 4846, updated on 31-Mar-2024
Gene type: protein coding
Also known as: eNOS; ECNOS

Summary

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Alzheimer disease type 1 MedGen: C1863052OMIM: 104300GeneReviews: Alzheimer Disease Overview	See labs
Essential hypertension, genetic MedGen: CN305331OMIM: 145500GeneReviews: Not available	See labs
Ischemic stroke MedGen: C0948008OMIM: 601367GeneReviews: Not available	See labs
Preeclampsia/eclampsia 1 MedGen: C5574918OMIM: 189800GeneReviews: Not available	See labs

Genomic context

Location:: 7q36.1

Sequence:: Chromosome: 7; NC_000007.14 (150991017..151014588)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NOS3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
NOS3 @ LOVD
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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