Renaler Natrium-Phosphat-Kotransporter NaPi-IIa
Das SLC34A1-Gen kodiert einen Natrium-Phosphat-Cotransporter in der Niere. Mutationen führen zur autosomal dominanten Hypophosphatämie mit Nephrolithiasis und Osteoporose 1 oder zum autosomal rezessiven renotubulären Fanconi-Syndrom Typ 2
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
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2. |
Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.
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3. |
Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.
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4. |
Prié D et al. (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
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5. |
Ghishan FK et al. (1994) Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia.
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6. |
Tenenhouse HS et al. (1994) Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization.
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7. |
Kos CH et al. (1994) Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35.
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8. |
Magagnin S et al. (1993) Expression cloning of human and rat renal cortex Na/Pi cotransport.
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9. |
Hartmann CM et al. (1996) Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).
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10. |
Kos CH et al. (1996) Comparative mapping of Na+-phosphate cotransporter genes, NPT1 and NPT2, in human and rabbit.
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11. |
McPherson JD et al. (1997) High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35.
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12. |
Zhang XX et al. (1997) Assignment of renal-specific Na(+)-phosphate cotransporter gene Slc17a2 to mouse chromosome band 13B by in situ hybridization.
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13. |
NCBI article
NCBI 6569
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14. |
OMIM.ORG article
Omim 182309
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15. |
Orphanet article
Orphanet ID 227390
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Update: 14. August 2020