GUCY2D(redirected from cone rod dystrophy 5/6)
GUCY2DA gene on chromosome 17p13.1 that encodes a retina-specific guanylate cyclase, which converts GTP to 3’,5’-cyclic GMP and diphosphate. It is activated by GCAP-1; unlike other guanylyl cyclases, guanylate cyclase 2D is not activated by natriuretic peptides. It is inhibited by calcium.
Defects in GUCY2D cause Leber congenital amaurosis type 1 and cone-rod dystrophy-6.