Functional Role of hCNGB3 in Regulation of Human Cone CNG Channel: Effect of Rod Monochromacy-Associated Mutations in hCNGB3 on Channel Function
Investigative Ophthalmology & Visual Science2004Vol. 45(7), pp. 2324–2324
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Akira Okada, Hisao Ueyama, Futoshi Toyoda, Sanae Oda, Wei‐Guang Ding, Shoko Tanabe, Shinichi Yamade, Hiroshi Matsuura, Iwao Ohkubo, Kazutaka Kani
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.
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