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CACNA1E

CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 S) is a Protein Coding gene. Diseases associated with CACNA1S include Hypokalemic Periodic Paralysis, Type 1 and Malignant Hyperthermia 5. Among its related pathways are Cardiac conduction and NFAT and Cardiac Hypertrophy. Gene Ontology (GO) annotations related to this gene include ion channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNA1C.
Protein class

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

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Oligodendrocyte precursor cells, Oligodendrocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (CACO-2, NB-4, NTERA-2, U-266/70)

Interaction

Interacts with EFHC1. 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.

Molecular function

Calcium channel, Ion channel, Voltage-gated channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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