Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Voltage-dependent L-type calcium channel subunit alpha-1S

The CACNA1S gene encodes an L-type calcium channel that is expressed in skeletal muscles. Mutations cause autosomal dominant hypokalemic periodic paralysis type 1 and malignant hyperthermia susceptibility type 5.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to thyrotoxic periodic paralysis 1
CACNA1S
Susceptibility to malignant hyperthermia 5
CACNA1S
Hypokalemic periodic paralysis 1
CACNA1S

References:

1.

None (1992) A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.

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2.

Chin H et. al. (1992) The gene for the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1.

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3.

None (1991) Functional subunit structure of voltage-gated calcium channels.

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4.

Campbell KP et. al. (1988) The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel.

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5.

Tanabe T et. al. (1988) Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

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6.

Tanabe T et. al. () Primary structure of the receptor for calcium channel blockers from skeletal muscle.

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7.

Hogan K et. al. (1994) Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).

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8.

Elbaz A et. al. (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.

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9.

Boerman RH et. al. (1995) Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

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10.

Gregg RG et. al. (1993) Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.

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11.

Jurkat-Rott K et. al. (1994) A calcium channel mutation causing hypokalemic periodic paralysis.

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12.

Ptácek LJ et. al. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

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13.

Fontaine B et. al. (1994) Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.

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14.

Drouet B et. al. (1993) The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32.

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15.

Iles DE et. al. (1994) Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.

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16.

Hogan K et. al. (1996) The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).

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17.

Sillén A et. al. (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.

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18.

None (1997) To fire the train: a second malignant-hyperthermia gene.

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19.

Monnier N et. al. (1997) 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.

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20.

Tricarico D et. al. (1999) Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.

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21.

Stewart SL et. al. (2001) Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.

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22.

None (1963) LETHAL GENES AND ANALYSIS OF DIFFERENTIATION.

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23.

None (1965) DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. I. GENETIC ANALYSIS AND GROSS MORPHOLOGY.

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24.

Kung AW et. al. (2004) Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.

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25.

Sokolov S et. al. (2007) Gating pore current in an inherited ion channelopathy.

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26.

Chabrier S et. al. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

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27.

Matthews E et. al. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

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28.

Ke T et. al. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.

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29.

Tang ZZ et. al. (2012) Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

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Update: Sept. 26, 2018