POU class 4 homeobox 3 (POU4F3)

POU class 4 homeobox 3 (POU4F3) is a protein-coding gene encoding a transcription factor that belongs to the POU-domain family. It contains two highly conserved DNA-binding domains—a POU-specific domain and a POU homeodomain—allowing it to regulate genes essential for the maturation, differentiation, and survival of sensory hair cells in the cochlea and vestibular system of the inner ear. POU4F3 acts as a pioneer transcription factor, opening condensed chromatin to enable hair cell development, and controls key downstream targets that inhibit apoptosis and support cell maintenance. Variants disrupting its DNA binding or nuclear localization lead to progressive deafness and are major Mendelian causes of non-syndromic sensorineural hearing loss (DFNA15). In animal models, complete loss results in severe hearing and balance disorders due to hair cell degeneration and secondary neuron loss in auditory pathways.

Other names

BRN3CBrain-3CBrn-3CBrain-specific homeobox/POU domain protein 3CDFNA15DFNA42DFNA52brain-specific homeobox/POU domain protein 3Cdeafness autosomal dominant 42POU domain class 4 transcription factor 3