CRB2 is a 1,285 amino acid protein that contains three laminin G-like domains and 15 EGF-like domains and exists as multiple alternatively spliced isoforms that are either secreted or membrane bound. Expressed in kidney and retina, as well as in fetal eye and brain, CRB2 is thought to play a role in the morphogenesis of polarized cells and may be involved in DNA repair. Defects in the gene encoding CRB2 are associated with the pathogenesis of autosomal recessive retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), the former of which refers to a group of diseases that lead to the degeneration of retinal photoreceptor cells, ultimately resulting in a loss of vision. The gene encoding CRB2 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome.

广州伟伯科技有限公司