SERPING1 : serpin family G member 1
Description
SERPING1, also known as C1 inhibitor, is a serine protease inhibitor gene crucial for regulating the complement and coagulation cascades. This gene encodes a protein that binds to and inhibits various serine proteases, including C1s, C1r, and kallikrein, preventing excessive activation of these cascades and maintaining homeostasis. Mutations in SERPING1 can lead to various inherited disorders, including hereditary angioedema (HAE), a rare genetic condition characterized by recurrent episodes of edema. Understanding the structure, function, and clinical significance of SERPING1 is essential for diagnosing and managing these disorders.
Associated Diseases
Did you know?
C1 inhibitor is also known to play a role in the immune response by inhibiting the release of inflammatory mediators from mast cells and basophils.
