Gene Symbol | GUCY2D |
Entrez Gene ID | 3000 |
Full Name | guanylate cyclase 2D, retinal |
Synonyms | CACD1,CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Leber congenital amaurosis 1, 204000 (3); Cone-rod dystrophy 6, 601777 (3); ?Central areolar choroidal dystrophy 1, 215500 (3) |