GUCY2D

Retinal guanylyl cyclase 1 also known as guanylate cyclase 2D, retinal is an is_associated_with::enzyme that in humans is encoded by the GUCY2D (guanylate cyclase 2D) is_associated_with::gene.

Function
This gene encodes a retina-specific is_associated_with::guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic is_associated_with::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 is_associated_with::natriuretic peptides.

Clinical significance
Mutations in this gene result in is_associated_with::Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.