POU4F3
Function
Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).
Involvement in disease
Deafness, autosomal dominant, 15
DFNA15
A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the POU transcription factor family. Class-4 subfamily.
Tissue Specificity
Brain. Seems to be specific to the retina.
Cellular localization
- Nucleus
- Cytoplasm
- Preferentially localized in the nucleus.
Alternative names
BRN3C, POU4F3, Brain-specific homeobox/POU domain protein 3C, Brain-3C, Brn-3C