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CACNA1F

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Transporters, Voltage-gated ion channels

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Cone photoreceptor cells, Rod photoreceptor cells, Bipolar cells)

Immune cell specificity

Immune cell enhanced (plasmacytoid DC)

Cell line specificity

Cell line enhanced (U-266/70)

Interaction

Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity). [Isoform 4]: Interacts with CABP4; suppresses robust calcium-dependent inactivation of channel without enhancing the hyperpolarized voltage-dependent activation (PubMed:27226626).

Molecular function

Calcium channel, Ion channel, Voltage-gated channel

More Types Infomation

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