Target intelligence / Profile preview

Guanylate Cyclase 2D (GUCY2D)

Target: GUCY2D
Molecular classification: Enzyme, Guanylyl cyclase, Membrane guanylyl cyclase

Overview

Guanylate cyclase 2D (GUCY2D), also known as retinal guanylyl cyclase 1 or retGC1, is a retina-specific enzyme that catalyzes the synthesis of cyclic GMP (cGMP) from GTP in rod and cone photoreceptors. This activity replenishes cGMP after it has been hydrolyzed during light exposure, allowing ion channels to reopen so that photoreceptors can return to their resting state. Mutations in the GUCY2D gene are linked with Leber congenital amaurosis type I (LCA1) and Cone-Rod Dystrophy type VI (CORD6).

Other names: Retinal guanylyl cyclase 1retGC1CORD6CYGDGUC1A4LCA1RCD2RETGC-1RETGC1retGCROS-GCROS-GC1ROSGC

Biological functions

cGMP synthesisPhototransductionVisual signal transductionRegulation of ion channels in photoreceptors

Disease associations

Leber congenital amaurosis type I (LCA1)Cone-Rod Dystrophy type VI (CORD6)Central areolar choroidal dystrophy

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