POU class 3 homeobox 3 (POU3F3)

POU class 3 homeobox 3 (POU3F3) is a transcription factor encoded by the POU3F3 gene, which features two functional domains (POU-specific and homeobox domains) critical for sequence-specific DNA binding. It is most active during neural development, regulating cortical neuron migration, layer specification, and neurogenesis by binding to octamer motifs in the promoters/enhancers of target genes[1][3][4][5][6][7]. Pathogenic variants in POU3F3 cause Snijders Blok-Fisher Syndrome, a rare neurodevelopmental disorder marked by delayed speech, global developmental delay, intellectual disability, autistic features, epilepsy, hypotonia, dysmorphic features, and other comorbidities (e.g., hearing loss, ophthalmological anomalies, joint hypermobility)[3][8]. POU3F3 is not a direct target for therapeutic drugs but serves as a crucial developmental regulator whose dysfunction leads to a spectrum of neurodevelopmental disorders.

Other names

BRN1OTF8Brain-1Brn-1Oct-8OTF-8brain-specific homeobox/POU domain protein 1octamer-binding protein 8octamer-binding transcription factor 8SNIBFISbrain-1oct-8