Sox genes encode for transcriptional regulators that are involved in the early embryonic develpoment and in the determination of cell fate. Sox2 is also known as SRY (sex determining region Y)-box2, contain genes that encode for the HMG-box domain that is responsible for DNA binding activity. Mutation of Sox2 genes is link to optic nerve hypoplasia and anophthalmia, a severe form of eye deformity.