Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

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

References:

1.

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

external link
2.

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

external link
3.

Baig SM et al. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
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.

external link
10.

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

external link
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.

external link
12.

Seino S et al. (1992) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.

external link
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.

external link
14.

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

external link
15.

NCBI article

NCBI 776 external link
16.

OMIM.ORG article

Omim 114206 external link
17.

Orphanet article

Orphanet ID 327310 external link
18.

Wikipedia article

Wikipedia EN (Cav1.3) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues