guanylate cyclase 2D (retinal guanylyl cyclase, GUCY2D)

Function

• role in rods &/or cones of photoreceptors
• enzyme involved resynthesis of cGMP required for recovery of dark state after phototransduction
• activated by GCAP-1, inhibited by Ca+2

GTP  <-->  3',5'-cyclic GMP + diphosphate

Pathology

• defects in GUCY2D are associated with LCA1 (Leber congenital amaurosis type 1)
• defects in GUCY2D are a cause of CORD6 (dominant cone-rod dystrophy type 6)

More general terms

• guanyl cyclase or guanylate cyclase

Database

• UniProt: http://www.uniprot.org/uniprot/Q02846.html
• OMIM: https://mirror.omim.org/entry/600179
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3000