IL17RE

Chr 3

interleukin 17 receptor E

NCBI Gene: 132014 ENSG00000163701 UniProt: Q8NFR9

The protein functions as a transmembrane receptor for interleukin-17C and signals through NF-kappa-B and MAPK pathways to regulate innate immunity against bacterial pathogens. Mutations cause chronic mucocutaneous candidiasis, an autosomal recessive primary immunodeficiency characterized by persistent fungal infections of the skin, nails, and mucous membranes. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.77

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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