NOS1AP

Ideogram_human_chromosome_1

NOS1AP

NOS1AP, also known as nitric oxide synthase 1 adaptor protein, is a protein that in humans is encoded by the NOS1AP gene. This gene is located on chromosome 1 and plays a crucial role in regulating the activity of nitric oxide synthase 1 (NOS1), an enzyme involved in the production of nitric oxide.

Function

NOS1AP functions as an adaptor protein that interacts with NOS1 to modulate its activity. By binding to NOS1, NOS1AP helps regulate the production of nitric oxide, a signaling molecule with various physiological functions in the body.

Clinical significance

Mutations in the NOS1AP gene have been associated with various cardiovascular conditions, including long QT syndrome, a heart rhythm disorder that can lead to sudden cardiac death. Studies have shown that alterations in NOS1AP expression or function can disrupt the normal electrical activity of the heart, increasing the risk of arrhythmias.

Interactions

NOS1AP has been found to interact with several other proteins involved in nitric oxide signaling pathways, such as NOS1 and NOS3. These interactions play a role in fine-tuning the production and release of nitric oxide in different tissues and organs.