title: The Ca(v)1.4 calcium channel: more than meets the eye.
abstract: Ca(v)1.4 channels are the latest calcium channels to be described in the literature. Originally identified in 1997 from the human genome project, several reports have since been published describing mutations in the CACNA1F gene encoding Ca(v)1.4 channels, and implicated these mutations in human disorders such as X-linked cone rod dystrophy (CORDX3) and incomplete X-linked congenital stationary night blindness type 2 (CSNB2). The gene was subsequently cloned and expressed in heterologous expression systems beginning in 2003, and many of the mutations linked to CSNB2 have been tested. Here, we review literature describing the discovery of the CACNA1F gene, its tissue expression profile, alternative splicing events, and biophysical and pharmacological characteristics of the channel in various expression systems. Channel biophysics are also compared to those obtained from recordings made from vertebrate photoreceptors, suggesting that these studies may have been describing Ca(v)1.4 channels in native cells.
authors.affiliation: Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Clinton J
authors.initials: CJ
authors.lastname: Doering
authors.forename: Jean B
authors.initials: JB
authors.lastname: Peloquin
authors.forename: John E
authors.initials: JE
authors.lastname: McRory
mesh_terms: D000818:Animals; D020746:Calcium Channels, L-Type / Q000235:genetics / Q000378:metabolism*; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism*; D005786:Gene Expression Regulation / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000378:metabolism*; D016045:Human Genome Project; D006801:Humans; D009154:Mutation; D009755:Night Blindness / Q000235:genetics / Q000378:metabolism*; D009928:Organ Specificity / Q000235:genetics; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism*
chemical_list: C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type; D005136:Eye Proteins