EYA1, Official Symbol EYA1provided by HGNC Official Full Name EYA transcriptional coactivator and phosphatase 1provided by HGNC Primary source HGNC:HGNC:3519 See related Ensembl:ENSG00000104313 MIM:601653; AllianceGenome:HGNC:3519 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BOP; BOR; BOS1; OFC1 Summary This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013] Expression Biased expression in prostate (RPKM 2.8), brain (RPKM 1.5) and 7 other tissues See more Orthologs mouse all