The cacna1s gene encodes an L-type voltage-gated calcium channel protein which functions as a membrane-bound ion channel. It mediates calcium influx upon membrane depolarization and is directly involve...[+]

The cacna1s gene encodes an L-type voltage-gated calcium channel protein which functions as a membrane-bound ion channel. It mediates calcium influx upon membrane depolarization and is directly involved in excitation-contraction coupling within skeletal muscle, linking the transverse tubule depolarization to calcium release from the sarcoplasmic reticulum. Its expression is localized to the transverse tubules of skeletal muscle cells. [-]

          MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
          THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD