Primary Identifier | MGI:97360 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 18125 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nitric-oxide synthase activity. Involved in several processes, including nitric oxide biosynthetic process; positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway; and positive regulation of the force of heart contraction. Acts upstream of or within several processes, including peptidyl-cysteine S-nitrosylation; positive regulation of transcription by RNA polymerase II; and regulation of metal ion transport. Located in several cellular components, including T-tubule; Z disc; and sarcoplasmic reticulum membrane. Is active in calyx of Held. Colocalizes with caveola. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study achalasia and hypertrophic pyloric stenosis. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; asthma; and cystic fibrosis. Orthologous to human NOS1 (nitric oxide synthase 1). PHENOTYPE: Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain. [provided by MGI curators] |