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GUCY2D is 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.
Gene Name: | Guanylate Cyclase 2d, Membrane (RETINA-SPECIFIC) |
Family/Subfamily: | Protein Kinase , Receptor guanylate cyclase |
Synonyms: | GUCY2D, CORD6, CYGD, Cone rod dystrophy 5/6, CORD5, Guanylate cyclase 2D, retinal, GUC1A4, GUC2D, RetGC, RETGC-1, RETGC1, Retinal guanylyl cyclase 1, ROS-GC1, ROSGC, ROS-GC, Guanylate Cyclase 2D, LCA, LCA1, RCD2 |
Target Sequences: | NM_000180 NP_000171.1 Q02846 |
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