Article
Guanylate cyclases and associated activator proteins in retinal disease.
Molecular and cellular biochemistry - 1 Jan 2010
Hunt David M, Buch Prateek, Michaelides Michel
Abstract excerpt
Two isoforms of guanylate cyclase, GC1 and GC2 encoded by GUCY2D and GUCY2F, are responsible for the replenishment of cGMP in photoreceptors after exposure to light. Both are required for the normal kinetics of photoreceptor sensitivity and recovery, although disease mutations are restricted to GUCY2D. Recessive mutations in this gene cause the severe early-onset blinding disorder Leber congenital amaurosis...
Topics
- Animals
- Guanylate Cyclase
- Guanylate Cyclase-Activating Proteins
- Humans
- Mutation
- Retinal Diseases
