C1R

1. 본문

C1R is a gene that encodes a protein, which is a member of the peptidase S1 protein family. Here's a breakdown of what that means and its function:
Function and Role:

• Complement System: C1R is a crucial component of the complement system, specifically the C1 complex. The complement system is part of the innate immune system, which provides a rapid, non-specific response to pathogens.
• C1 Complex: The C1 complex is formed by C1r, C1q, and C1s. C1r and C1s exist as a Ca(2+)-dependent C1s-C1r-C1r-C1s tetramer that associates with C1q.
• Activation: C1r is initially present as an inactive proenzyme. It becomes activated when the C1 complex binds to antibodies that are attached to antigens (immune complexes).
• Protease Activity: Once activated, C1r functions as a serine protease. The activation occurs by proteolytic cleavage. Its primary role is to cleave and activate C1s, another protease in the C1 complex.
• Classical Pathway: The activated C1 complex triggers the classical complement pathway. This cascade ultimately leads to:
• Phagocytosis: Engulfing and destroying pathogens.
• Inflammation: Recruiting immune cells to the site of infection.
• Cell Lysis: Rupturing the cell walls of bacteria.

• Gene: In humans, the C1R gene encodes the C1r protein.
• Protein Structure: C1r is a single-chain protein with a molecular weight of 92,000 Daltons in its proenzyme form.
• Protein Family: Belongs to the peptidase S1 family of proteins.

• Mutations in the C1R gene are associated with Ehlers-Danlos Syndrome, particularly the periodontal type.