EYA1: Proteins and Enzymes

The EYA1 gene encodes an eyes absent homolog 1 protein that exists in three isoforms: isoform 1: 592 amino acids long, 64 kDA; isoform 2: 559 amino acids long, 61 kDA; and isoform 3: 557 amino acids long; 60 kDA. The protein coded by the EYA1 gene functions in the development of the kidney, brancial arches, eyes, and ears. Mutations in the EYA1 gene lead to branchiootorenal dysplasia syndrome, congenital cataracts and ocular anterior segment anomalies, and branchiootic syndrome. The EYA1 gene is also linked to fraser syndrome, microphthalmia, cataracts, enlarged vestibular aqueducts, townes-brocks syndrome, and anophthalmia.