Entrez gene ID | | 3000 |
Official gene symbol | | GUCY2D |
Full name | | guanylate cyclase 2D, membrane (retina-specific) |
Aliases | | ,CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17p13.1 |
Gene position | | 7905988 - 7923658 Map Viewer |
Gene orientation | | plus |
Gene size | | 17671 bp |
Gene sequence |
| |
OMIM ID | | 600179 |
|