LURAP1

Chr 1

leucine rich adaptor protein 1

Also known as: C1orf190, LRAP35a, LRP35A

NCBI Gene: 541468 ENSG00000171357 UniProt: Q96LR2 OMIM: 616129

The protein activates the canonical NF-kappa-B pathway to drive pro-inflammatory cytokine production and promotes dendritic cell antigen presentation, while also regulating actomyosin assembly crucial for cell migration through interactions with MYO18A and CDC42BPA/CDC42BPB. Based on current databases, no established human disease associations have been reported for LURAP1 mutations. The gene shows tolerance to loss-of-function variation (pLI 0.01, LOEUF 1.18), suggesting haploinsufficiency is unlikely to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

Involved in positive regulation of canonical NF-kappaB signal transduction and positive regulation of cytokine production. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)