kininogen1

Kininogen1, also known as KNG1, is a gene that encodes the protein kininogen. Kininogen is a precursor protein that plays a crucial role in the kinin-kallikrein system, a complex cascade involved in blood pressure regulation, inflammation, and pain. There are two main forms of kininogen produced from this gene: high-molecular-weight kininogen (HMWK) and low-molecular-weight kininogen (LMWK). These forms differ in their structure and function, although both are involved in similar biological processes.

HMWK is primarily found in plasma and is essential for the activation of the intrinsic pathway of coagulation. It also acts as a cofactor for the enzyme plasma kallikrein, which cleaves HMWK to release bradykinin, a potent vasodilator and inflammatory mediator. LMWK is found in both plasma and intracellularly, and its precise functions are less well-defined than those of HMWK, though it can also be cleaved to release kinins.

Mutations in the KNG1 gene can lead to various clinical conditions. Deficiencies in kininogen can result in bleeding disorders, as HMWK is crucial for normal blood clotting. Conversely, dysregulation of the kinin-kallikrein system due to altered kininogen levels or activity has been implicated in inflammatory diseases, hypertension, and pain sensitization. Research continues to explore the multifaceted roles of kininogen in health and disease.