基因名称(Gene Name)
VSX2 CHX10 HOX10
蛋白名称
Visual system homeobox 2 (Ceh-10 homeodomain-containing homolog) (Homeobox protein CHX10)
免疫原
Synthesized peptide derived from human protein . at AA range: 70-150
特异性
VSX2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009],
功能
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:6
