Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

The CACNA1D gene encodes a calcium channel which when mutated causes autosomal dominant hyperaldosteronism type 4. Also somatic mutations are described in adrenal ademonas.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research 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:

Hyperaldosteronism type 4
CACNA1D
CACNA1H
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

References:

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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Update: Sept. 26, 2018