Renaler Urattransporter 2
Der renale Urattransporter SLC2A9 ist für den Transport der von den renalen Tubuluszellen apikal aufgenommenen Harnsäure aus der zelle verantwortlich. Diese Transporter gehört in dei Familie der Glucosetransporter, deshalb ist auch eine Beeinflussung des Glucosestoffwechsels möglich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Döring A et al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
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2. |
Vitart V et al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
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3. |
Matsuo H et al. (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.
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4. |
Phay JE et al. (2000) Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).
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5. |
Augustin R et al. (2004) Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking.
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6. |
Wallace C et al. (2008) Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
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7. |
Anzai N et al. (2008) Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans.
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8. |
Preitner F et al. (2009) Glut9 is a major regulator of urate homeostasis and its genetic inactivation induces hyperuricosuria and urate nephropathy.
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9. |
NCBI article
NCBI 56606
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10. |
OMIM.ORG article
Omim 606142
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11. |
Orphanet article
Orphanet ID 171045
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Update: 14. August 2020