C1QA
Description
The C1QA gene encodes the alpha chain of complement component 1, a protein crucial for initiating the classical pathway of the complement system. This intricate system plays a pivotal role in immune defense by recognizing and eliminating pathogens, clearing immune complexes, and promoting inflammation. The C1QA gene‘s product, C1q, is a complex molecule composed of six subunits, each consisting of an A chain, a B chain, and a C chain. C1q binds to various targets, including antibodies bound to pathogens, apoptotic cells, and certain immune complexes. This binding triggers a cascade of events, leading to the formation of the membrane attack complex (MAC), which ultimately destroys the target cell. While essential for immune function, mutations or dysregulation of the C1QA gene can lead to various diseases.
Associated Diseases
- Systemic lupus erythematosus (SLE)
- Rheumatoid arthritis (RA)
- Sjögren‘s syndrome
- Vasculitis
- Glomerulonephritis
- Multiple sclerosis (MS)
- Alzheimer‘s disease
- Cancer
Did you know?
C1q has been shown to play a role in the clearance of apoptotic cells, which is crucial for preventing autoimmune reactions.
