Calcium Channel, Voltage Dependent, L-Type, Alpha 1S Subunit (CACNa1S)

CACNL1A3; CCHL1A3; Cav1.1; HOKPP; MHS5; hypoPP; DHPR; Dihydropyridine Receptor; Voltage-gated calcium channel subunit alpha Cav1.1

SPN	R566
HGNC	1397
MGI	88294
PubMed	22901280
UniProt	Q13698
Wiki	Cav1.1

CACNa1S 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. Ca_v1.1 is a voltage-dependent calcium channel found in the transverse tubule of muscles. In skeletal muscle it associates with the ryanodine receptor RyR1 of the sarcoplasmic reticulum via a mechanical linkage. It senses the voltage change caused by the end-plate potential from nervous stimulation and propagated by sodium channels as action potentials to the T-tubules. When the muscle depolarises, the channel opens to allow calcium entry, as well as activating RyR1 which mediates much greater calcium entry from the sarcoplasmic reticulum.

Reference

"Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)."
Genomics 24:608-609(1994) [PubMed] [Europe PMC] [Abstract]

"The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)."
Genomics 31:392-394(1996) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

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"Assignment of the human gene for the alpha-1 subunit of the skeletal muscle DHP-sensitive calcium channel (CACNL1A3) to chromosome 1q31-q32."
Genomics 15:107-112(1993) [PubMed] [Europe PMC] [Abstract]

"Dihydropyridine receptor mutations cause hypokalemic periodic paralysis."
Cell 77:863-868(1994) [PubMed] [Europe PMC] [Abstract]

"Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis."
J. Clin. Endocrinol. Metab. 89:1340-1345(2004) [PubMed] [Europe PMC] [Abstract]

"A calcium channel mutation causing hypokalemic periodic paralysis."
Hum. Mol. Genet. 3:1415-1419(1994) [PubMed] [Europe PMC] [Abstract]

"Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle."
Am. J. Hum. Genet. 60:1316-1325(1997) [PubMed] [Europe PMC] [Abstract]

"The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis."
J. Korean Med. Sci. 22:946-951(2007) [PubMed] [Europe PMC] [Abstract]

"Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family."
Neuromuscul. Disord. 17:419-422(2007) [PubMed] [Europe PMC] [Abstract]

"Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis."
Neurology 72:1544-1547(2009) [PubMed] [Europe PMC] [Abstract]