A gene on chromosome 8q13.3 encodes EYA1 (eyes absent), a protein with 16 exons. EYA1 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serine-threonin)-rich amino terminal is highly divergent. EYA is expressed in flexor tendons and the developing central nervous system, kidney, eye and ear. EYA1 acts a transcriptional activator in connective tissue patterning through its PST domain, which functions as a transactivation domain. EYA1 plays a critical role in the development of the inner ear and kidney. EYA is involved in early inductive signaling, acting upstream of GDNF. EYA1 has been implicated in the autosomal dominant disorders branchio-oto-renal (BOR) syndrome and branhio-oto (BO) syndrome.
