GeneID: 30



Names

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

Description:
The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Polymorphisms in this gene were found to be strongly associated with the HbF response to hydroxyurea (HU) in sickle cell patients.

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

Comments:
N/A

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. 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 2016-04-28 14:09:48 (Show full history)


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