DISEASES

Disease-gene associations mined from literature

Literature associating POU4F3 and autosomal dominant nonsyndromic deafness

POU4F3 [ENSP00000230732]

Brain-specific homeobox/POU domain protein 3C; Acts as a transcriptional activator. Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity); Belongs to the POU transcription factor family. Class- 4 subfamily.

Synonyms:  POU4F3,  POU4F3p,  hPOU4F3,  POU4F3-001,  Q15319 ...

Linkouts:  STRING  Pharos  UniProt  OMIM