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Spannungsabhängiger Calcium-Kanal, T-Typ, alpha-1H

Das CACNA1H-Gen kodiert einen Calcium-Kanal, der wenn mutiert zu einem autosomal dominanten familiären Hyperaldosteronismus 4 führen kann. Auch somatische Mutationen bei Nebennierenadenomen sind bekannt.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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

Referenzen:

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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14.

Orphanet article

Orphanet ID 286549 external link
15.

NCBI article

NCBI 8912 external link
16.

OMIM.ORG article

Omim 607904 external link
Update: 14. August 2020
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