NEURL3

Chr 2

neuralized E3 ubiquitin protein ligase 3

Also known as: LINCR, RNF132

NCBI Gene: 93082 ENSG00000163121 UniProt: A8MQ27

NEURL3 encodes an E3 ubiquitin-protein ligase that regulates the Notch signaling pathway by controlling the stability and activity of Notch ligands through targeted protein degradation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and developmental regression. This represents a rare cause of early-onset epileptic encephalopathy affecting both neurological development and seizure control.

ResearchSummary from RefSeq, UniProt

Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal protein catabolic process. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)