| Modification Notes |
The Brn family of transcription factors are found in a highly restricted subset of neurons and are critical to the early embryonic development of the central nervous system. POU3F4 (POU domain, class 3, transcription factor 4), also known as OTF9, DFN3, DFNX2, BRAIN-4 or Brn-4, is a 361 amino acid class III POU domain protein that belongs to the Brn family. Localized to the nucleus, POU3F4 contains one POU-specific domain and one homeobox DNA-binding domain through which it is thought to function as a brain-specific transcription factor that effects neuronal development. Defects in the gene encoding POU3F4 are associated with X-linked deafness type 3 (DFN3), a disorder characterized by both progressive sensorineural deafness and conductive hearing loss caused by stapes gushers (large vestibular aqueducts). |