Entrez 3000 | Ensembl ENSG00000132518 | |
Aliases GUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, guanylate cyclase 2D, retinal External IDs MGI: 105123 HomoloGene: 55442 GeneCards: GUCY2D | ||
Retinal guanylyl cyclase 1 also known as guanylate cyclase 2D, retinal is an enzyme that in humans is encoded by the GUCY2D (guanylate cyclase 2D) gene.
Contents
Function
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.
Clinical significance
Mutations in this gene result in Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.
References
GUCY2D Wikipedia(Text) CC BY-SA