Article
Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
The Journal of biological chemistry - 1 Jan 2000
Avesani Anna, Marino Valerio, Zanzoni Serena, Koch Karl-Wilhelm, Dell'Orco Daniele
Abstract excerpt
In murine and bovine photoreceptors, guanylate cyclase-activating protein 2 (GCAP2) activates retinal guanylate cyclases (GCs) at low Ca2+ levels, thus contributing to the Ca2+/cGMP negative feedback on the cyclase together with its paralog guanylate cyclase-activating protein 1, which has the same function but different Ca2+ sensitivity. In humans, a GCAP2 missense mutation (G157R) has been associated with...
Topics
- Calcium
- Guanylate Cyclase-Activating Proteins
- Humans
- Magnesium
- Mutation
- Protein Conformation
- Protein Multimerization
- Retinal Dystrophies
