|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “potassium voltage-gated channel, KQT-like subfamily, member 4.”
KCNQ4 is the gene's official symbol. The KCNQ4 gene is also known by other names, listed below.
The KCNQ4 gene provides instructions for making a protein called potassium voltage-gated channel KQT-like protein 4. The KCNQ4 protein is part of a protein family that forms channels to transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels, made from four protein subunits, play a key role in the ability of cells to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its tissue location. Potassium channels made with the KCNQ4 protein are found in the inner ear and along part of the nerve pathway from the ear to the brain (auditory pathway). KCNQ4 potassium channels are also found in small numbers in the heart and some muscles.
Because KCNQ4 potassium channels are present in the inner ear and auditory pathway, researchers have focused on their role in hearing. Hearing requires the conversion of sound waves to electrical nerve signals. This conversion involves many processes, including maintaining the proper level of potassium ions in the inner ear. Although the exact role of KCNQ4 channels remains unknown, these channels appear to be critical for the efficient transmission of electrical nerve signals. KCNQ4 channels may help recycle potassium ions within the inner ear to maintain the proper potassium ion balance.
The KCNQ4 gene belongs to a family of genes called KCN (potassium channels).
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.
Several KCNQ4 gene mutations have been reported in individuals with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA2. Most KCNQ4 gene mutations change one of the building blocks (amino acids) used to make the KCNQ4 protein. Nearly all of these changes affect the region of the protein that forms the pore or channel opening. As a result, the channel does not function properly and normal potassium ion levels may be disturbed. Two mutations delete part of the KCNQ4 gene, which results in an abnormally small KCNQ4 protein that cannot form functional channels. It is unclear whether deafness results from disturbed potassium levels within the inner ear, alterations in the auditory pathway, or both.
Cytogenetic Location: 1p34
Molecular Location on chromosome 1: base pairs 40,784,011 to 40,840,451
The KCNQ4 gene is located on the short (p) arm of chromosome 1 at position 34.
More precisely, the KCNQ4 gene is located from base pair 40,784,011 to base pair 40,840,451 on chromosome 1.
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 KCNQ4 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 ; auditory ; autosomal ; autosomal dominant ; channel ; gene ; ions ; potassium ; protein ; tissue ; voltage
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.