Article
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
Proceedings of the National Academy of Sciences of the United States of America - 24 May 2005
Hemara-Wahanui Ariana, Berjukow Stanislav, Hope Carolyn I, Dearden Peter K, Wu Shu-Biao, Wilson-Wheeler Jane, Sharp Dianne M, Lundon-Treweek Patricia, Clover Gillian M, Hoda Jean-Charles, Striessnig Jörg, Marksteiner Rainer, Hering Steffen, Maw Marion A
Abstract excerpt
Light stimuli produce graded hyperpolarizations of the photoreceptor plasma membrane and an associated decrease in a voltagegated calcium channel conductance that mediates release of glutamate neurotransmitter. The Ca(v)1.4 channel is thought to be involved in this process. The CACNA1F gene encodes the poreforming subunit of the Ca(v)1.4 channel and various mutations in CACNA1F cause X-linked incomplete...
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