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.,

非质量问题不退换