Spannungsabhängiger Calcium-Kanal, L-Typ, alpha-1D
Das CACNA1D-Gen kodiert einen Calcium-Kanal, der wenn mutiert zu einem autosomal dominanten familiären Hyperaldosteronismus 4 führen kann. Auch somatische Mutationen bei Nebennierenadenomen sind bekannt.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Scholl UI et al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
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2. |
Azizan EA et al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
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3. |
Baig SM et al. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
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4. |
Liu X et al. (2010) Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.
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5. |
Pennartz CM et al. (2002) Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock.
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6. |
Platzer J et al. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.
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7. |
Jinnah HA et al. (1999) Calcium channel activation and self-biting in mice.
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8. |
Mori Y et al. (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel.
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9. |
Chin HM et al. (1991) A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3.
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10. |
Tsien RW et al. (1991) Molecular diversity of voltage-dependent Ca2+ channels.
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11. |
Seino S et al. (1992) Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3.
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12. |
Seino S et al. (1992) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.
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13. |
Williams ME et al. (1992) Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.
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14. |
Davare MA et al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.
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15. |
NCBI article
NCBI 776
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16. |
OMIM.ORG article
Omim 114206
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17. |
Orphanet article
Orphanet ID 327310
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Update: 14. August 2020