SIX6, OPTX2, SIX9, Homeobox protein SIX6, Homeodomain protein OPTX2, Optic homeobox 2, Sine oculis homeobox homolog 6
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila sine oculis gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008],disease:Defects in SIX6 are the cause of microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataractand other abnormalities like cataract may also be present.,function:May be involved in eye development.,similarity:Belongs to the SIX/Sine oculis homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.,
