LRRC19

Chr 9

leucine rich repeat containing 19

NCBI Gene: 64922 ENSG00000184434 UniProt: Q9H756

LRRC19 encodes a pathogen-recognition receptor that mediates NF-kappaB signaling pathway activation and induces pro-inflammatory cytokine expression, particularly important for preventing uropathogenic bacterial infections in the kidney and regulating host-microbiota interactions in the gut. The gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.777), and no established Mendelian disease associations have been reported to date. Clinical significance of LRRC19 variants in pediatric patients remains unclear given the lack of documented disease phenotypes.

ResearchSummary from RefSeq, UniProt

Predicted to enable signaling receptor activity. Acts upstream of or within positive regulation of non-canonical NF-kappaB signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.78

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)