EYA4

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.

nonsyndromic deafness - caused by mutations in the EYA4 gene

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.

other disorders - caused by mutations in the EYA4 gene

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.