ARGLU1

Chr 13

arginine and glutamate rich 1

NCBI Gene: 55082 ENSG00000134884 UniProt: Q9NWB6

This protein functions as a dual regulator of gene expression, serving as a transcriptional coactivator for nuclear receptors and directly modulating alternative splicing of pre-mRNAs through binding to spliceosome components. Mutations cause neurodevelopmental disorders affecting the central nervous system, heart development, and neuronal function. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants, indicating that even single functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

Enables pre-mRNA binding activity and transcription coactivator activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

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)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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