Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

[^]
2.

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

[^]
3.

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

[^]
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.

[^]
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.

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
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.

[^]
13.

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

[^]

 

 
Ihre Nachricht: