Interferon regulatory factor 2 binding protein-like (IRF2BPL)

Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a nuclear protein that serves dual roles as a **transcriptional regulator** and a probable **E3 ubiquitin-protein ligase**, mediated by its C-terminal RING finger domain[1][2][3][4]. This domain enables protein turnover through ubiquitination, and IRF2BPL is implicated in context-dependent transcriptional activation and repression, notably in gene networks governing puberty onset and reproductive cycling, as well as the Wnt/β-catenin signaling pathway[1][2][3][4]. The gene is intronless, encodes an 796-amino acid protein, and is highly dosage sensitive; both its excess and deficiency are associated with severe neurological phenotypes such as neurodevelopmental regression, epilepsy, ataxia, dystonia, and progressive neurodegeneration[2][3][4]. Pathogenic IRF2BPL variants are linked to NEDAMSS syndrome, and experimental studies indicate essential roles for neuronal maintenance and CNS homeostasis. IRF2BPL is currently not the target of approved drugs, but its critical function and mutational intolerance highlight the importance of further therapeutic research.

Other names

Probable E3 ubiquitin-protein ligase IRF2BPLEAP1 (Enhanced at puberty protein 1)C14orf4KIAA1865My039NEDAMSSIRF2BP-L (used in some contexts)

No drugs characterized. In principle, targeting would likely inhibit or enhance its transcriptional or ubiquitin ligase activity.