NOS1

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]

该基因编码的蛋白质属于一氧化氮合酶家族，该家族能够将L-精氨酸转化为一氧化氮。一氧化氮作为一种活性自由基，在多种生理过程中充当生物介质，包括神经传导、抗菌和抗癌活性。在大脑和周围神经系统内，一氧化氮展现出多种神经递质的特性，并已被证实与中风和神经退行性疾病相关的神经毒性、平滑肌的神经调节（包括蠕动和阴茎勃起）有关。该蛋白质在体内广泛表达，尤其在骨骼肌中表达水平较高。对于该基因，已描述了多种不同的转录变体，这些变体在5'非翻译区（UTR）存在差异，但其转录本的完整结构尚不清楚。此外，还发现了该基因编码不同异构体（其中一些为睾丸特异性）的交替剪接转录变体。[由RefSeq提供，2011年2月]