VSX2 Polyclonal Antibody

disease:Defects in VSX2 are the cause of microphthalmia isolated type 2 (MCOP2) [MIM:610093]; also known as isolated clinical anophthalmia. 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.,disease:Defects in VSX2 are the cause of microphthalmia isolated with coloboma type 3 (MCOPCB3) [MIM:610092]; also known as isolated colobomatous microphthalmia 3. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).,disease:Defects in VSX2 are the cause of microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092].,function:Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 CVC domain.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 1 OAR domain.,tissue specificity:Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate.,