Background information
The Six proteins (sine oculis) are a family of homeodomain transcription factors that share a conserved DNA binding domain. Six3 is required for the specification and proliferation of the eye field in vertebrates and may be involved in some developmental disorders of the brain. Expression of Six3 is detected in human embryos as early as five to seven weeks of gestation, and is maintained in the eye throughout the entire period of fetal development. At 20 weeks of gestation, expression of Six3 in the human retina has been observed in ganglion cells and in cells of the inner nuclear layer. Six3 maps to human chromosome 2p16-p21, between genetic markers D2S119 and D2S288. The map position of human Six3 overlaps the positions of two dominant disorders (holoprosencephaly type 2 and Malattia leventinese) with ocular phenotypes that have been assigned to this chromosomal region.
