Eyes absent homolog 4 is aprotein that in humans is encoded by theEYA4gene.[5][6][7]
This gene encodes a member of theeyes absent (EYA) subfamily of proteins. The encoded protein may act as a transcriptional activator and be important for continued function of the matureorgan 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.[7]
Schönberger J, Wang L, Shin JT, et al. (2005). "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss".Nat. Genet.37 (4):418–422.doi:10.1038/ng1527.PMID15735644.S2CID20760254.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization".Nat. Biotechnol.24 (10):1285–1292.doi:10.1038/nbt1240.PMID16964243.S2CID14294292.
Hildebrand MS, Coman D, Yang T, et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss".Am. J. Med. Genet. A.143 (14):1599–1604.doi:10.1002/ajmg.a.31860.PMID17568404.S2CID40602803.
