Einwärtsgerichteter Kaliumkanal KCNJ5
Das KCNJ5-Gen kodiert einen einwärts gerichteten Kaliumkanal, der auf vielen Zellmembranen vorkommen kann. Besondere physiologische Bedeutung besitzt dieser Kanal für die Aldosteron sezernierenden Zellen der Zona glomerulosa der Nebenniere und bei der Reizbildung im Herzen. In der Nebenieren steuert der Kanal die Aldosteronsekretion in Abhängigkeit von der extrazellulären Kaliumkonzentration. Es werden nicht nur somatische Mutationen in Aldoseronproduzierenden Tumoren der Nebenierenrinde gefunden. Keimbahnmutationen führen zu primären Hyperaldosteronismus Typ 3 und zum Long-QT-Syndrom Typ 13.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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3. |
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8. |
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9. |
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10. |
None (2013) Primary aldosteronism and potassium channel mutations.
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11. |
Li NF et al. (2013) Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.
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12. |
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13. |
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15. |
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16. |
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17. |
Åkerström T et al. (2012) Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
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18. |
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Bar-Lev A et al. (2012) Genetics of adrenocortical disease: an update.
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20. |
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21. |
Choi M et al. (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
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22. |
Yang Y et al. (2010) Identification of a Kir3.4 mutation in congenital long QT syndrome.
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23. |
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24. |
Perry CA et al. (2008) Predisposition to late-onset obesity in GIRK4 knockout mice.
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25. |
OMIM.ORG article
Omim 600734
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26. |
NCBI article
NCBI 3762
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27. |
Orphanet article
Orphanet ID 235181
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Update: 14. August 2020