chx 10 Antibody – Sheep Polyclonal

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

By similarity.

Subcellular location: Nucleus.

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.

Involvement in disease: Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]: A 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, cataract and other abnormalities like cataract may also be present.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]: A 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, cataract and other abnormalities like cataract may also be present.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]: A 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, cataract and other abnormalities like cataract may also be present. 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).Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities: Belongs to the paired homeobox family.Contains 1 CVC domain.Contains 1 homeobox DNA-binding domain.