NOS1
LOCUS ID4842
GENE_SYMBOLNOS1
GENE NAMEnitric oxide synthase 1 (neuronal)
SYNONYMNSNOS, bNOS, nNOS, IHPS1, N-NOS, NC-NOS
CHROMOSOME12
HOMOLOGENE ID37327
microRNAsNANA
GENE SUMMARY
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. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Nitric oxide synthase 1 (NOS1) 5' haplotype (TGTC frequency = 0.38) also revealed a suggestive association with diabetic nephropathy heterozygous 1.26 (0.95-1.67), homozygous 1.57 (1.04-2. 35) (p = 0.0073).19415232
Retinopathy1. These suggest that increased nNOS activity is responsible for the majority of increased NO in retinal neurons in early diabetic retinopathy. 2. The alterations in eNOS, nNOS and iNOS expression are associated with the deuelopmant and progression of DR.19936028 , 17545029
Neuropathy1. Immunohistochemical evaluation of NOS1 activity showed intense staining of the fibres of the DNP and most of the neurones in the main pelvic ganglion. There was also scattered NOS1 activity in the nerve bundles of the corpus cavernosum. 2. This study provides a useful template for future studies of experimental diabetic autonomic neuropathy.17378850