RBM44

Chr 2

RNA binding motif protein 44

NCBI Gene: 375316 ENSG00000177483 UniProt: Q6ZP01

RBM44 encodes a protein that functions as a component of intercellular bridges during meiosis, structures that connect differentiating germ cells, and is predicted to be involved in mRNA splicing via the spliceosome. Pathogenic variants in RBM44 cause neurodevelopmental disorder with seizures and nonepileptic paroxysms, which follows an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable protein homodimerization activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in cytoplasm and intercellular bridge. Predicted to be part of catalytic step 2 spliceosome. [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)

—

P/LP submissions

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P/LP missense

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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