GUCY2D Rabbit pAb

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. Synonyma: LCA, CACD, CG-E, CYGD, LCA1, RCD2, CACD1, CORD5, CORD6, GUC2D, ROSGC, retGC, CSNB1I, GUC1A4, RETGC-1, ROS-GC1, GUCY2D