RNF44

Chr 5

ring finger protein 44

NCBI Gene: 22838 ENSG00000146083 UniProt: Q7L0R7 OMIM: 619283

The encoded protein contains a RING finger domain that mediates protein-protein and protein-DNA interactions. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.502), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

OMIM 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.50

LOEUF

Mechanism· predicted