Functional Role of hCNGB3 in Regulation of Human Cone CNG Channel: Effect of Rod Monochromacy-Associated Mutations in hCNGB3 on Channel Function

Abstract

The hCNGB3 plays an important modulatory role in the function of human cone CNG channels with respect to cGMP and extracellular Ca(2+) sensitivities. The rod monochromacy-associated S435F and D633G mutations in hCNGB3 evokes a significant increase in the apparent affinity for cGMP, which should alter cone function and thereby contribute at least partly to pathogenesis of the disease.