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. [provided by RefSeq, Jul 2008]

Description

Calcium voltage-gated channel subunit alpha1 S

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

1:q32.1 (201039512 - 201112451)

Ensembl ID

ENSG00000081248  (ver. 103.38)

Orthologs

Mouse Cacna1s: ENSMUSG00000026407

UniProt

Q13698

neXtProt

NX_Q13698

Human splice variants
Mouse splice variants