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Renal sodium/phosphate cotransporter NaPi-IIa

This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene cause autosomal dominant disorder hypophosphatemia nephrolithiasis/osteoporosis 1 and the autosomal recessive disorder Fanconi renotubular syndrome type 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fanconi renotubular syndrome 2
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1

References:

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 external link
14.

OMIM.ORG article

Omim 182309 external link
15.

Orphanet article

Orphanet ID 227390 external link
16.

Wikipedia article

Wikipedia EN (SLC34A1) external link
Update: Aug. 14, 2020
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