Spannungsabhängiger L-Typ-Calcium-Kanal Untereinheit alpha-1S
Das CACNA1S-Gen kodiert einen Calcium-Kanal vom L-Typ, der vor allem im Skelettmuskel exprimiert wird. Mutationen führen zu autosomal dominanter hypokalämischer periodischer Paralyse vom Typ 1 und einer Anfälligkeit für maligne Hyperthermie Typ 5.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
Ke T et al. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
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4. |
None (1965) DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. I. GENETIC ANALYSIS AND GROSS MORPHOLOGY.
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5. |
None (1963) LETHAL GENES AND ANALYSIS OF DIFFERENTIATION.
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6. |
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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7. |
Tricarico D et al. (1999) Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.
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8. |
None (1997) To fire the train: a second malignant-hyperthermia gene.
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9. |
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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10. |
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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11. |
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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12. |
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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13. |
Jurkat-Rott K et al. (1994) A calcium channel mutation causing hypokalemic periodic paralysis.
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14. |
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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15. |
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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16. |
Tanabe T et al. () Primary structure of the receptor for calcium channel blockers from skeletal muscle.
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17. |
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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18. |
Ptácek LJ et al. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
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19. |
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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20. |
Sokolov S et al. (2007) Gating pore current in an inherited ion channelopathy.
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21. |
Chabrier S et al. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
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22. |
Matthews E et al. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
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23. |
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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24. |
None (1992) A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.
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25. |
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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26. |
None (1991) Functional subunit structure of voltage-gated calcium channels.
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27. |
Campbell KP et al. (1988) The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel.
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28. |
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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29. |
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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30. |
Orphanet article
Orphanet ID 119157
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31. |
NCBI article
NCBI 779
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32. |
OMIM.ORG article
Omim 114208
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33. |
Wikipedia Artikel
Wikipedia DE (Spannungsabhängiger_L-Typ-Calciumkanal)
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Update: 14. August 2020