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 |
Verknüpfte Erkrankungen:
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
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15. |
NCBI article
NCBI 8912
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16. |
OMIM.ORG article
Omim 607904
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Update: 14. August 2020