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gucy2d

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Official Full Name
guanylate cyclase 2D, membrane (retina-specific)
Background
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.
Synonyms
GUCY2D; guanylate cyclase 2D, membrane (retina-specific); cone rod dystrophy 5/6 , CORD5, CORD6, GUC1A4, GUC2D, LCA; retinal guanylyl cyclase 1; CYGD; LCA1; retGC; RETGC 1; ROS GC1; CORD6; guanylate cyclase 2D membrane (retina-specific); GUC1A4; GUC2D; LCA; RETGC-1; ROS-GC1; ROS-GC; OTTHUMP00000135309; guanylate cyclase 2D, retinal; rod outer segment membrane guanylate cyclase; RCD2; CORD5; ROSGC

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