Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Voltage-dependent T-type calcium channel subunit alpha-1H

The CACNA1H gene encodes a calcium channel which when mutated causes autosomal dominant hyperaldosteronism type 4. Also somatic mutations are described in adrenal ademonas.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic 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.

Cribbs LL et. al. (1998) Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family.

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2.

Williams ME et. al. (1999) Structure and functional characterization of a novel human low-voltage activated calcium channel.

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3.

Bijlenga P et. al. (2000) T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts.

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4.

Jagannathan S et. al. (2002) Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms.

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5.

Chemin J et. al. (2002) Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.

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6.

Shin JB et. al. (2003) A T-type calcium channel required for normal function of a mammalian mechanoreceptor.

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7.

Wolfe JT et. al. (2003) T-type calcium channel regulation by specific G-protein betagamma subunits.

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8.

Chen Y et. al. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy.

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9.

Khosravani H et. al. (2004) Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.

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10.

Heron SE et. al. (2004) Genetic variation of CACNA1H in idiopathic generalized epilepsy.

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11.

Khosravani H et. al. (2005) Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy.

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12.

Vitko I et. al. (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.

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13.

Heron SE et. al. (2007) Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

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Update: Sept. 26, 2018