Klotho
Das KL-Gen kodiert Klotho, welches Zusammen mit FGFR1 für die Signaltranduktion des Proteinhormons FGF23 verantwortlich ist. Daneben scheint es auch noch eine wichtige Rolle in anderen Regulationsprozessen zu spielen, so scheinen niedrige Spiegel die Alterung zu beschleunigen während hohe Spiegel dieses Proteins mit Langlebigkeit im Zusammenhang zu stehen. Aktivitätsmindernde Mutationen führen zur autosomal rezessiven hyperphosphatämischen Tumorcalcinose. Eine aktivitätssteigerne Translokation an diesem Lokus führt zu einer dominanten Hypophosphatämie mit Hyperparathyreoidismus.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho.
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2. |
Brownstein CA et al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.
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3. |
Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging.
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4. |
Imura A et al. (2007) alpha-Klotho as a regulator of calcium homeostasis.
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5. |
Haruna Y et al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene.
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6. |
Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.
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7. |
Bektas A et al. (2004) Klotho gene variation and expression in 20 inbred mouse strains.
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8. |
Arking DE et al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease.
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9. |
Manya H et al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain.
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10. |
Fukino K et al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho.
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11. |
Arking DE et al. (2002) Association of human aging with a functional variant of klotho.
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12. |
Koh N et al. (2001) Severely reduced production of klotho in human chronic renal failure kidney.
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13. |
Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice.
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14. |
Saito Y et al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome.
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15. |
Matsumura Y et al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein.
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16. |
Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
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17. |
Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
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18. |
Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.
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19. |
Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.
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20. |
OMIM.ORG article
Omim 604824
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21. |
NCBI article
NCBI 9365
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22. |
Orphanet article
Orphanet ID 179419
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23. |
Wikipedia Artikel
Wikipedia DE (Klotho_(Protein))
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Update: 14. August 2020