IL23A

Chr 12

interleukin 23 subunit alpha

Also known as: IL-23, IL-23A, IL23P19, P19, SGRF

NCBI Gene: 51561 ENSG00000110944 UniProt: Q9NPF7

This gene encodes a subunit that associates with IL12B to form interleukin-23, a pro-inflammatory cytokine that binds to receptors on memory CD4+ T cells and promotes T-helper 17 cell expansion and interleukin-17 production for bacterial clearance. Mutations cause immunodeficiency-38 with mycobacterial disease, autoimmunity, and viral infections, following autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.711), and affected individuals typically present with recurrent infections and autoimmune manifestations.

ResearchSummary from RefSeq, UniProt

This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.71

LOEUF

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Mechanism

Some data sources returned errors (1)

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