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Biological Chemistry

Editor-in-Chief: Brüne, Bernhard

Editorial Board Member: Buchner, Johannes / Lei, Ming / Ludwig, Stephan / Sies, Helmut / Turk, Boris / Wittinghofer, Alfred

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Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies

Petra Behnen
  • Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany
/ Daniele Dell'Orco
  • Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany
/ Karl-Wilhelm Koch
  • Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany
Published Online: 2010-04-06 | DOI: https://doi.org/10.1515/bc.2010.063


Progressive visual impairment leading to blindness is often associated with inherited retinal dystrophies. These disorders correlate in most cases with mutations in genes that code for proteins of the visual transduction system in rod and cone photoreceptor cells. Recent progress has highlighted the involvement of a neuronal calcium sensor protein that is specifically expressed in rod and cone cells and operates as a guanylate cyclase-activating protein (GCAP). A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca2+-sensing and its guanylate cyclase-activating properties. Cellular consequences of different GCAP1 mutations are compared and discussed.

Keywords: calcium sensor; cGMP; phototransduction; retinal disease

Corresponding author

Received: 2009-11-30

Accepted: 2010-02-15

Published Online: 2010-04-06

Published in Print: 2010-06-01

Citation Information: Biological Chemistry. Volume 391, Issue 6, Pages 631–637, ISSN (Online) 1437-4315, ISSN (Print) 1431-6730, DOI: https://doi.org/10.1515/bc.2010.063, April 2010

Citing Articles

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Patrick Zägel, Daniele Dell’Orco, and Karl-Wilhelm Koch
Biochemistry, 2013, Volume 52, Number 30, Page 5065
Cristina Martínez-Fernández de la Cámara, Ma Dolores Sequedo, Ulises Gómez-Pinedo, Teresa Jaijo, Elena Aller, Patricia García-Tárraga, José Manuel García-Verdugo, José María Millán, and Regina Rodrigo
Experimental Eye Research, 2013, Volume 111, Page 122
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Biological Chemistry, 2010, Volume 391, Number 6

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