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GUCY2D鎶椾綋
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闈舵爣锛欬p style="text-indent: 2em;">GUCY2D
浜у搧鍒悕锛欬p style="text-indent: 2em;">CACD1锛 CG-E锛 CORD5锛 CORD6锛 CSNB1I锛 CYGD锛 GUC1A4锛 GUC2D锛 LCA锛 LCA1锛 RCD2锛 RETGC-1锛 ROS-GC1锛 ROSGC锛 retGC锛 GUCY2D锛 guanylate cyclase 2D, retinal锛 guanylate cyclase 2D, retinal锛 retinal guanylyl cyclase 1锛 ROS-GC锛 cone rod dystrophy 6锛 guanylate cyclase 2D, membrane (retina-specific)锛 retinal guanylate cyclase 1锛 rod outer segment membrane guanylate cyclase锛 鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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. 瀹夸富锛歊bt |
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