Article
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Human mutation - 1 Aug 2009
Kitiratschky Veronique B D, Behnen Petra, Kellner Ulrich, Heckenlively John R, Zrenner Eberhart, Jägle Herbert, Kohl Susanne, Wissinger Bernd, Koch Karl-Wilhelm
Abstract excerpt
The GUCA1A gene encodes the guanylate cyclase activating protein 1 (GCAP1) of mammalian rod and cone photoreceptor cells, which is involved in the Ca2+-dependent negative feedback regulation of membrane bound guanylate cyclases in the retina. Mutations in the GUCA1A gene have been associated with different forms of cone dystrophies leading to impaired cone vision and retinal degeneration. Here we report the...
Topics
- Calcium
- Female
- Genotype
- Guanylate Cyclase
- Guanylate Cyclase-Activating Proteins
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Retinal Cone Photoreceptor Cells
- Retinal Degeneration
- Spectrometry, Fluorescence