NOS1 wt Allele

Preferred Label : NOS1 wt Allele;

NCIt synonyms : Nitric Oxide Synthase 1 (Neuronal) wt Allele; NOS; IHPS1; nNOS; N-NOS; bNOS; NC-NOS; Nitric Oxide Synthase, Neuronal Gene; NOS-1;

NCIt definition : Human NOS1 wild-type allele is located within 12q24.2-q24.31 and is approximately 151 kb in length. This allele, which encodes nitric-oxide synthase, brain protein, is involved in nitric oxide biosynthesis from L-arginine and molecular oxygen. Certain allelic variants of the NOS1 gene are associated with susceptibility to either infantile hypertrophic pyloric stenosis or Parkinson's disease.;

GenBank Accession Number : NM_000620;

Details

Origin ID

C50894;

UMLS CUI

C1705516;

OMIM relation
- Nitric oxide synthase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Parkinson Disease [NCIt concept]
- Pyloric Stenosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 12: 116262302-116113699 [NCIt concept]
gene_in_chromosomal_location
- 12q24.2-q24.31 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Arginine and Proline Metabolism Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
- Nitric Oxide Signaling Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
- Sumoylation in Modulation of CtBP-Dependent Gene Response Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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