RNF41

Chr 12

ring finger protein 41

Also known as: FLRF, NRDP1, SBBI03

NCBI Gene: 10193 ENSG00000181852 UniProt: Q9H4P4

The protein functions as an E3 ubiquitin ligase that regulates degradation of multiple target proteins including cytokine receptors, growth factor receptors, and proteins involved in cell death and mitochondrial quality control. Mutations cause autosomal dominant developmental and epileptic encephalopathy with movement abnormalities. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

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

0.31

LOEUF· LoF intol.

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Mechanism

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