IL17RC gene
The IL17RC gene provides instructions for a receptor protein that is essential for the immune system's defense against Candida fungal infections.
Normal Function
The IL17RC gene provides instructions for making a protein involved in the body's defense against the fungus Candida. When the immune system recognizes Candida, it generates Th17 cells, which produce signaling molecules called the interleukin-17 (IL-17) family. This process, known as the IL-17 pathway, triggers the release of cytokines and white blood cells to fight invaders, promote tissue repair, and stimulate the production of antimicrobial peptides that control Candida growth on mucous membranes.
The protein produced from the IL17RC gene functions as part of a receptor for IL-17 cytokines. By working with the protein produced from the IL17RA gene, it allows IL-17 cytokines to attach to cells, triggering signals that promote inflammation and immune defense.
Health Conditions Related to Genetic Changes
Familial candidiasis
Mutations in the IL17RC gene have been identified in people with familial candidiasis, an inherited tendency to develop Candida infections. Most affected individuals experience chronic yeast infections of the skin, nails, and mucous membranes, known as chronic mucocutaneous candidiasis, beginning in early childhood.
These mutations result in an absence of the IL17RC receptor protein, which impairs IL-17 signaling. This reduction in signaling decreases the production of antimicrobial peptides and inflammatory molecules, leading to the chronic infections characteristic of this condition.
Genomic Location
The IL17RC gene is found on chromosome 3.
