Cav1.4 also known as thecalcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a humangene.[5]
This gene encodes a member of the alpha-1 subunit family; aprotein in thevoltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multipleisoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing oftranscripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incompleteX-linked congenital stationary night blindness type 2 (CSNB2).[5]
This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.
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