Eyes Absent Homolog 4 (EYA4)

EYA4 encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and be important for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three transcript variants encoding distinct isoforms have been identified for this gene.EYA4 encodes a 640-amino acid protein containing a highly conserved C-terminal domain of 271 amino acids, which has been designated the eya-homologous region (eya-HR) or eya domain. In the developing mouse embryo, Eya4 was expressed primarily in the craniofacial mesenchyme, the dermamyotome, and the limb.