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

Protein family

Disease related genes, FDA approved drug targets, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters, Voltage-gated ion channels

Chromosome

1:q32.1 (201039512 - 201112451)

Ensembl ID

ENSG00000081248  (ver. 98.38)

Orthologs

Mouse Cacna1s: ENSMUSG00000026407

UniProt

Q13698

neXtProt

NX_Q13698

Human splice variants
Mouse splice variants