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Center for Nephrology and Metabolic Disorders
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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 Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic 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.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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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11.

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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12.

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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13.

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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14.

Orphanet article

Orphanet ID 286549 external link
15.

NCBI article

NCBI 8912 external link
16.

OMIM.ORG article

Omim 607904 external link
17.

Wikipedia article

Wikipedia EN (CACNA1H) external link
Update: Aug. 14, 2020
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