Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyperaldosteronismus Typ 4
CACNA1D
CACNA1H
Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

Referenzen:

1.

Davare MA et. al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.

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2.

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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3.

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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4.

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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5.

Tsien RW et. al. (1991) Molecular diversity of voltage-dependent Ca2+ channels.

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6.

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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7.

Mori Y et. al. (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel.

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8.

Jinnah HA et. al. (1999) Calcium channel activation and self-biting in mice.

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9.

Platzer J et. al. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

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10.

Pennartz CM et. al. (2002) Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock.

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11.

Liu X et. al. (2010) Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.

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12.

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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13.

Scholl UI et. al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

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14.

Azizan EA et. al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

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