EYA4

Description

The EYA4 (EYA transcriptional coactivator and phosphatase 4) is a protein-coding gene located on chromosome 6.

EYA4, encoded by the EYA4 gene, is a member of the eyes absent (EYA) protein family. It functions as a transcriptional activator and is vital for the ongoing function of the mature organ of Corti. Mutations in the EYA4 gene are linked to postlingual, progressive, autosomal dominant hearing loss, specifically at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three distinct isoforms of EYA4 are produced from different transcript variants of the gene.

EYA4 is also known as CMD1J, DFNA10.

Associated Diseases

• Cardiomyopathy, dilated, 1J
• Deafness, autosomal dominant nonsyndromic sensorineural 10
• Sensorineural deafness with dilated cardiomyopathy