Aliases for GUCY2D Gene
External Ids for GUCY2D Gene
Previous Symbols for GUCY2D Gene
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]
GeneCards Summary for GUCY2D Gene
GUCY2D (Guanylate Cyclase 2D, Membrane (Retina-Specific)) is a Protein Coding gene. Diseases associated with GUCY2D include leber congenital amaurosis 1 and cone-rod dystrophy 6. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include identical protein binding and receptor activity. An important paralog of this gene is ADCY5.
UniProtKB/Swiss-Prot for GUCY2D Gene
Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction