IL17RC

Chr 3

interleukin 17 receptor C

Also known as: CANDF9, IL17-RL, IL17RL

NCBI Gene: 84818 ENSG00000163702 UniProt: Q8NAC3

This protein functions as a receptor for the proinflammatory cytokines IL-17A and IL-17F, activating NF-kappa-B signaling pathways that are essential for antimicrobial host defense and stimulating production of antimicrobial peptides by epithelial cells. Autosomal recessive mutations cause familial candidiasis, characterized by chronic mucocutaneous candidal infections due to impaired immune responses against fungal pathogens. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…