Achromatopsia-associated Mutation in the Human Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 Subunit Alters the Ligand Sensitivity and Pore Properties of Heteromeric Channels

Cone photoreceptor cyclic nucleotide-gated (CNG) channels are thought to form by assembly of two different subunit types, CNGA3 and CNGB3. Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans. Here we describe the functional consequences of two achro...

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Veröffentlicht in:	The Journal of biological chemistry 2003-09, Vol.278 (36), p.34533-34540
Hauptverfasser:	Peng, Changhong, Rich, Elizabeth D., Varnum, Michael D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Calcium Channel Blockers - pharmacology Cell Membrane - metabolism Color Vision Defects - genetics Cyclic AMP - metabolism Cyclic GMP - metabolism Cyclic Nucleotide-Gated Cation Channels Diltiazem - pharmacology Dimerization Dose-Response Relationship, Drug Electrophysiology Green Fluorescent Proteins Humans Ion Channels Kinetics Ligands Luminescent Proteins - metabolism Microscopy, Confocal Models, Biological Molecular Sequence Data Mutation Oocytes - metabolism Photoreceptor Cells - chemistry Potassium - metabolism Protein Structure, Tertiary Recombinant Fusion Proteins - metabolism Recombinant Proteins - metabolism Retinal Cone Photoreceptor Cells - metabolism RNA, Messenger - metabolism Sequence Homology, Amino Acid Xenopus laevis
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