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Related Experiment Video

Updated: Jun 15, 2026

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina
09:05

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Published on: May 6, 2015

GCAP1 mutations associated with autosomal dominant cone dystrophy.

Li Jiang1, Wolfgang Baehr

  • 1Department of Biology, University of Utah, Salt Lake City, UT 84132, USA.

Advances in Experimental Medicine and Biology
|March 19, 2010
PubMed
Summary

Autosomal dominant cone dystrophies are linked to mutations in the GUCA1A gene, affecting guanylate cyclase activating protein 1 (GCAP1). These gain-of-function mutations alter GCAP1 structure and calcium sensitivity, leading to retinal disease.

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Last Updated: Jun 15, 2026

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Autosomal dominant cone and cone-rod dystrophies (adCD/adCORD) exhibit significant genetic heterogeneity.
  • The GUCA1A gene, encoding guanylate cyclase activating protein 1 (GCAP1), is a key player in these inherited retinal diseases.
  • GCAP1 regulates guanylate cyclase 1 (GC1) activity in response to intracellular calcium levels.

Purpose of the Study:

  • To review known GUCA1A mutations causing adCD/adCORD.
  • To elucidate the structural and functional consequences of these mutations on GCAP1.
  • To understand how altered GCAP1 impacts GC1 stimulation and leads to disease.

Main Methods:

  • Literature review of GUCA1A mutations and their associated phenotypes.
  • Analysis of structural changes in GCAP1 due to specific missense mutations.
  • Assessment of altered calcium (Ca2+) binding affinity and its effect on GCAP1 function.

Main Results:

  • Several missense mutations in GUCA1A have been identified, primarily affecting the EF hand domains of GCAP1.
  • These mutations result in a gain of function for GCAP1, altering its calcium sensitivity.
  • The altered GCAP1 directly impacts GC1 activity, leading to dominant cone and cone-rod dystrophy phenotypes.

Conclusions:

  • GUCA1A mutations are a significant cause of autosomal dominant cone and cone-rod dystrophies.
  • Understanding the molecular mechanisms of these mutations provides insight into retinal degeneration pathways.
  • Targeting GCAP1 or GC1 may offer therapeutic strategies for these inherited retinal diseases.