GeneID: 30


Common Name: NOS1 Type: Gene
Chromosome: 12 (NC_000012.12) Locus: NG_011991.2 (NOS1)
HUGO Symbol: NOS1 Full Name: nitric oxide synthase 1
Exons: 29 Introns: 28

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide (NO) from L-arginine. NO is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter; it is implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. NO is also responsible for endothelium-derived relaxing factor activity regulating blood pressure. Variations in NOS genes have been associated with exhaled NO (FeNO) levels in individuals with a history of acute chest syndrome (ACS). A low FeNO concentration is a marker for ACS and has been significantly associated with the number of AAT repeats in intron 20 in patients with sickle cell disease (SCD) who had at least one episode of ACS. Also, several variants in this gene associated with haemoglobin F (HbF) response to hydroxyurea in patients with SCD.

Synonyms: NOS , bNOS , nNOS , IHPS1 , N-NOS , NC-NOS , Constitutive NOS , Neuronal NOS , Peptidyl-cysteine S-nitrosylase NOS1


Sequence Viewer

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Publications / Origin

  1. Kishimoto J, Spurr N, Liao M, Lizhi L, Emson P, Xu W, Localization of brain nitric oxide synthase (NOS) to human chromosome 12., Genomics , 14(3), 802-4, 1992 PubMed
  2. Geller DA, Lowenstein CJ, Shapiro RA, Nussler AK, Di Silvio M, Wang SC, Nakayama DK, Simmons RL, Snyder SH, Billiar TR, Molecular cloning and expression of inducible nitric oxide synthase from human hepatocytes., Proc. Natl. Acad. Sci. U.S.A. , 90(8), 3491-5, 1993 PubMed
  3. Sullivan KJ, Kissoon N, Duckworth LJ, Sandler E, Freeman B, Bayne E, Sylvester JE, Lima JJ, Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome., Am. J. Respir. Crit. Care Med., 164(12), 2186-90, 2001 PubMed
  4. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2020-03-26 16:56:30 (Show full history)

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