C1S
Description
The C1S gene encodes for the serine protease C1s, a critical component of the classical pathway of the complement system. This pathway plays a vital role in immune defense by recognizing and eliminating pathogens, such as bacteria and viruses. C1s acts as a crucial enzyme in the cascade, cleaving and activating other complement proteins, ultimately leading to the formation of the membrane attack complex (MAC), which can lyse target cells. The C1S gene is located on chromosome 12 and is highly conserved across species. Its proper function is essential for maintaining immune homeostasis and preventing autoimmune disorders.
Associated Diseases
- Hereditary Angioedema (HAE): Mutations in the C1S gene can cause a deficiency in C1s activity, leading to the accumulation of bradykinin, a potent vasodilator, and resulting in recurrent episodes of swelling in the face, extremities, and internal organs.
- Systemic Lupus Erythematosus (SLE): Disruptions in the complement system, including C1s, have been implicated in the development of SLE. Aberrant activation of the complement pathway can contribute to tissue damage and inflammation associated with this autoimmune disease.
- Paroxysmal Nocturnal Hemoglobinuria (PNH): While not directly linked to the C1S gene, deficiencies in the complement system, including C1s, can contribute to the severity of PNH, a rare blood disorder characterized by hemolysis due to complement-mediated destruction of red blood cells.
Did you know?
The classical complement pathway was first discovered in 1907 by Jules Bordet, who was awarded the Nobel Prize in Physiology or Medicine in 1919 for his work on immunity.
