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The official name of this gene is “POU class 3 homeobox 4.”
POU3F4 is the gene's official symbol. The POU3F4 gene is also known by other names, listed below.
The POU3F4 gene provides instructions for making a protein that helps regulate the activity of other genes. Based on this role, the protein is called a transcription factor. The POU3F4 gene is part of a larger family of genes called POU domain genes, all of which produce transcription factors. POU domain genes play a role in determining cell types in the central nervous system during early development. Each protein in the POU domain family has two regions, called the POU-specific domain and POU homeodomain, that bind to the DNA of other genes.
The POU3F4 gene is likely to be involved in the development of the middle and inner ear, and is also active in certain regions of the brain before birth. Researchers have not determined which genes are regulated by the POU3F4 protein.
The POU3F4 gene belongs to a family of genes called homeobox (homeoboxes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Mutations in or near the POU3F4 gene cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFN3. This form of hearing loss usually involves abnormalities of both the inner and middle ear (mixed hearing loss). People who have surgery for this form of deafness are at high risk of a complication called a perilymphatic gusher. This complication causes a leakage of fluid from the inner ear that can result in severe dizziness and a total loss of hearing.
More than 15 POU3F4 mutations have been identified. Most of these genetic changes alter single protein building blocks (amino acids) in the POU3F4 protein or delete a small amount of genetic material from the gene. The mutations prevent cells from producing any POU3F4 protein or alter regions of the protein that are critical for binding to DNA. A lack of functional POU3F4 protein probably disrupts the normal development of structures in the middle and inner ear, leading to hearing loss.
In some cases of DFN3, mutations have been found in a section of DNA near the POU3F4 gene. Researchers believe that this region may play a role in regulating the POU3F4 gene.
Cytogenetic Location: Xq21.1
Molecular Location on the X chromosome: base pairs 82,763,268 to 82,764,774
The POU3F4 gene is located on the long (q) arm of the X chromosome at position 21.1.
More precisely, the POU3F4 gene is located from base pair 82,763,268 to base pair 82,764,774 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about POU3F4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cell ; central nervous system ; class ; complication ; DNA ; domain ; gene ; homeobox ; homeodomain ; nervous system ; protein ; surgery ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.