背景
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.
