NOS2 Chromosome 17

Nitric oxide synthase 2
3 variants 1 Health Risk 2 Protective

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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. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000007171
Associated Conditions (4)
repeat number of microsatellite
Malaria
severe
resistance to
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2301368 Health Risk association repeat number of microsatellite, repeat number of microsatellite
RS1800482 Protective protective Malaria, severe, resistance to
RS9282799 Protective protective Malaria, resistance to, Malaria
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