Aliases for GUCY2D Gene
External Ids for GUCY2D Gene
Previous HGNC Symbols for GUCY2D Gene
Previous GeneCards Identifiers 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, Retinal) is a Protein Coding gene. Diseases associated with GUCY2D include Cone-Rod Dystrophy 6 and Leber Congenital Amaurosis 1. Among its related pathways are Metabolism of fat-soluble vitamins and Phototransduction. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is GUCY2F.
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.