RBM41

Chr X

RNA binding motif protein 41

NCBI Gene: 55285 ENSG00000089682 UniProt: Q96IZ5

RBM41 encodes a protein that binds to U12 snRNA and is part of the U12-type spliceosomal complex involved in splicing a rare class of introns. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.32), but no confirmed human disease associations have been established to date. Additional research is needed to determine whether RBM41 mutations cause developmental or neurological phenotypes in humans.

ResearchSummary from RefSeq, UniProt

Predicted to enable U12 snRNA binding activity and pre-mRNA intronic binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Jul 2025]

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

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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