C2CD4D
Description of C2CD4D
C2CD4D is a protein encoded by the C2CD4D gene in humans. It is a member of the C2 domain family of proteins and plays a crucial role in the immune system by regulating the complement system, which is essential for defending the body against infections. C2CD4D is a complement component 2, which is involved in the classical pathway of complement activation. It facilitates the interaction between C2a and C4b, leading to the formation of the C3 convertase, a key enzyme in the complement cascade.
Associated Diseases
Mutations or deficiencies in the C2CD4D gene have been associated with several diseases, including:
- Hereditary Angioedema (HAE): HAE is a rare genetic disorder characterized by episodes of severe swelling in various body parts, including the face, extremities, abdomen, and airway. C2CD4D deficiency is the most common cause of HAE, accounting for approximately 85% of cases.
- Systemic Lupus Erythematosus (SLE): SLE is an autoimmune disease that affects multiple organs, including the skin, joints, kidneys, and brain. C2CD4D deficiency has been associated with an increased risk of developing SLE.
- Membranoproliferative Glomerulonephritis (MPGN): MPGN is a kidney disease characterized by inflammation and thickening of the glomeruli, the filtering units of the kidney. C2CD4D deficiency can lead to a type of MPGN known as dense deposit disease.
Did you Know ?
According to the National Organization for Rare Disorders (NORD), HAE affects approximately 1 in 50,000 people worldwide. However, due to underdiagnosis and varying symptoms, the actual prevalence may be higher.
