RNF13

Chr 3AD

ring finger protein 13

Also known as: DEE73, EIEE73, RZF

NCBI Gene: 11342 ENSG00000082996 UniProt: O43567 OMIM: 609247

RNF13 encodes an E3 ubiquitin-protein ligase that regulates cell proliferation, apoptosis, and protein trafficking. Mutations cause developmental and epileptic encephalopathy 73, which follows an autosomal dominant inheritance pattern. This represents an early-onset neurodevelopmental disorder affecting both cognitive development and seizure control.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 73MIM #618379

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.90

LOEUF

GOF

Mechanism· G2P