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CACNA1S
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Transporters, Voltage-gated ion channels
Predicted location
Membrane
Single cell type specificity
Cell type enhanced (Skeletal myocytes, Cone photoreceptor cells, Late spermatids, Cardiomyocytes)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Group enriched (BEWO, HSkMC)
Interaction
Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2 (By similarity). CACNA1S channel activity is modulated by the auxiliary subunits (CACNB1 or CACNB2, CACNG1 and CACNA2D1). Interacts with DYSF and JSRP1 (By similarity). Interacts with RYR1 (By similarity). Interacts with STAC, STAC2 and STAC3 (via their SH3 domains) (PubMed:29078335). Interacts with CALM (PubMed:19473981).
Molecular function
Calcium channel, Calmodulin-binding, Ion channel, Voltage-gated channel
More Types Infomation
- Mouse Anti-CACNA1S Recombinant Antibody (clone 1A) (NEUT-099CQ)
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- Species Reactivity: Human, Mouse, Rat, Fish, Guinea pig, Rabbit
- Type: Mouse IgG1
- Application: Block, ELISA, FC, IF, IHC, IHC-Fr, IHC-P, IP, WB
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For Research Use Only. Not For Clinical Use.