NOS3 Chromosome 7
Nitric oxide synthase 3
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What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000164867
Associated Conditions (3)
Premature ovarian failure
Metabolic syndrome
susceptibility to
Key Variants
RS747502487
Conflicting classifications of pathogenicity
Health Risk
RS752309888
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS765854160
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS2070744
protective
Metabolic syndrome, susceptibility to, Metabolic syndrome
Protective
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747502487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752309888 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS765854160 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS2070744 | Protective | protective | Metabolic syndrome, susceptibility to, Metabolic syndrome |