Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction.

ABSTRACT: Cone dystrophy-related mutations in guanylate cyclase-activating protein 1 (GCAP1) are known to cause severe disturbance of their Ca(2+)-sensing properties affecting also their regulatory modes. However, crucial biochemical properties of mutant GCAP1 forms have not been fully elucidated and regulatory parameters of GCAP1 mutants have not been considered within the context of a comprehensive description of the phototransduction cascade kinetics. We investigated therefore the structure-function relationships of four dystrophy-relevant point mutations in GCAP1 harboring the following amino acid substitutions: E89K, D100E, L151F, and G159V. All mutations decrease the catalytic efficiency in regulating the target guanylate cyclase and decrease the affinity of Ca(2+)-binding in at least one, but

SUBMITTER: Dell'Orco D 

PROVIDER: S-EPMC11924817 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature