Sulfate-Anionentransporter 1
Das SLC26A1-Gen kodiert einen Anionentransporter in de Nierentubuli. Mutationen führen zu einer rezessiven Prädisposition für Nierensteine.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lohi H et al. (2000) Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
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2. |
Gee HY et al. (2016) Mutations in SLC26A1 Cause Nephrolithiasis.
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3. |
Wu M et al. (2016) Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.
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4. |
Regeer RR et al. (2003) Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).
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5. |
NCBI article
NCBI 10861
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6. |
OMIM.ORG article
Omim 610130
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Update: 14. August 2020