|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “EYA transcriptional coactivator and phosphatase 4.”
EYA4 is the gene's official symbol. The EYA4 gene is also known by other names, listed below.
The EYA4 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA4 protein is called a transcription factor or transcription coactivator. The EYA4 gene is active in the heart, inner ear, muscles, and other tissues throughout the body.
Two regions of the EYA4 protein, called the Eya domain and the variable domain, are important for interactions with other proteins. These protein interactions help to control gene activities that appear to be important for heart function, development of the inner ear, and maintenance of normal hearing.
The EYA4 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
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.
A few EYA4 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 DFNA10. These mutations create a premature stop signal in the instructions for making the EYA4 protein. As a result, no protein is produced, or an abnormally small protein is made. The abnormal EYA4 protein lacks some or all of the Eya domain, which impairs interactions with other proteins. Impaired protein interactions probably disrupt the control of gene activities that are important for the development of the inner ear and maintenance of normal hearing.
A mutation in the EYA4 gene has also been identified in individuals with hearing loss and a heart condition called dilated cardiomyopathy, in which the heart loses much of its pumping power. Moderate to severe hearing loss usually occurs by late adolescence, and the heart condition develops during adulthood. The mutation deletes a large segment of the EYA4 gene. As a result, the EYA4 protein is missing the Eya domain and part of the variable domain, which reduces interactions with other proteins. Decreased protein interactions probably disrupt the control of gene activities that are important for normal heart function and maintenance of normal hearing.
Cytogenetic Location: 6q23
Molecular Location on chromosome 6: base pairs 133,241,335 to 133,532,120
The EYA4 gene is located on the long (q) arm of chromosome 6 at position 23.
More precisely, the EYA4 gene is located from base pair 133,241,335 to base pair 133,532,120 on chromosome 6.
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 EYA4 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.
autosomal ; autosomal dominant ; cardiomyopathy ; dilated ; domain ; familial ; gene ; mutation ; phosphatase ; protein ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference 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.