Gene: CACNA1S

Alternate names for this Gene: CACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: calcium voltage-gated channel subunit alpha1 S

Type of Gene: protein-coding

rs184837031 in CACNA1S gene and Cardiac troponin T measurement PMID 31014085 2019 Cardiac Troponin T and Troponin I in the General Population.

rs3850625 in CACNA1S gene and Creatinine measurement, serum (procedure) PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs4498834 in CACNA1S gene and Developmental absence of tooth PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs3850625 in CACNA1S gene and Glomerular Filtration Rate PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4498834 in CACNA1S gene and Hypodontia PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs4498834 in CACNA1S gene and Hypodontia Oligodontia with Orofacial Cleft PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs28930068 in CACNA1S gene and Hypokalemic periodic paralysis type 1 PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

PMID 28857175 2017 Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.

PMID 8004673 1994 Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 29572832 2018 When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.

PMID 7987325 1994 A calcium channel mutation causing hypokalemic periodic paralysis.

PMID 7847370 1995 Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 11555352 2001 Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.

PMID 17418573 2007 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 10639629 2000 Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis.

PMID 15716625 2005 A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

PMID 18229654 2007 Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 15726306 2005 Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

PMID 9066893 1997 Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

PMID 8605978 1996 Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.

PMID 9852570 1998 Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H.

PMID 9512357 1998 Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)

PMID 23187123 2012 A calcium channel mutant mouse model of hypokalemic periodic paralysis.

PMID 11034874 2000 Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.

PMID 11808349 2001 [A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].

rs28930068 in CACNA1S gene and MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

PMID 10639629 2000 Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis.

PMID 7847370 1995 Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

PMID 17418573 2007 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

PMID 11555352 2001 Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.

PMID 8004673 1994 Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

PMID 18229654 2007 Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 15716625 2005 A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

PMID 9852570 1998 Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H.

PMID 11808349 2001 [A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].

PMID 9512357 1998 Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)

PMID 9066893 1997 Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

PMID 7987325 1994 A calcium channel mutation causing hypokalemic periodic paralysis.

PMID 11034874 2000 Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.

PMID 15726306 2005 Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

PMID 23187123 2012 A calcium channel mutant mouse model of hypokalemic periodic paralysis.

PMID 8605978 1996 Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.

rs4498834 in CACNA1S gene and Oligodontia PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs763794604 in CACNA1S gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

rs3820422 in CACNA1S gene and Schizophrenia PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

rs4498834 in CACNA1S gene and TOOTH AGENESIS, SELECTIVE, 9 PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs4498834 in CACNA1S gene and Tooth Agenesis, Familial PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs4498834 in CACNA1S gene and Tooth Agenesis, Selective, With Orofacial Cleft PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs4498834 in CACNA1S gene and Tooth development and eruption disorder PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs3850625 in CACNA1S gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.