POU4F3 Antibody – Rabbit

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]

POU4F3: May play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in POU4F3 are the cause of deafness autosomal dominant type 15 (DFNA15). DFNA15 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Belongs to the POU transcription factor family. Class- 4 subfamily.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: nucleoplasm

Molecular Function: transcription factor activity

Biological Process: vestibulocochlear nerve development; inner ear morphogenesis; neuron apoptosis; sensory perception of sound; visual perception; axon extension; auditory receptor cell differentiation; positive regulation of transcription from RNA polymerase II promoter; neuromuscular process controlling balance; retinal ganglion cell axon guidance

Disease: Deafness, Autosomal Dominant 15