Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene SLC34A3 encodes a sodium phosphate transporter located in the apical membrane of proximal tubulus cells. Inactivating mutations result in hyperphosphaturie with hypercalciuria and rickets, which is inherited in an autosomal recessive pattern.
The gene SLC34A3 is expressed exclusively in the kidney where the encoded transporter is found in the apical membrane of proximal tubulus cells.
Loss-of-function mutation in the SLC34A3 gene cause autosomal recessive hypophosphatemic rickets with hypercalciuria. Truncating and missense mutations have been described as pathogenetic relevant.
| 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 |
| 1. |
Bergwitz C et al. (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. 
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| 2. |
Lorenz-Depiereux B et al. (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
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| 3. |
Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria.
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| 4. |
Segawa H et al. (2002) Growth-related renal type II Na/Pi cotransporter.
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| 5. |
Murer H et al. (2004) The sodium phosphate cotransporter family SLC34.
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| 6. |
Ichikawa S et al. (2006) Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.
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| 7. |
Forster IC et al. (2006) Proximal tubular handling of phosphate: A molecular perspective.
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| 8. |
None (2007) Hereditary hypophosphatemias: new genes in the bone-kidney axis.
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| 9. |
Miyamoto K et al. (2007) New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.
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| 10. |
Biber J et al. (2009) Regulation of phosphate transport in proximal tubules.
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| 11. |
NCBI article NCBI 142680
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| 12. |
OMIM.ORG article Omim 609826
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| 13. |
Orphanet article Orphanet ID 118834
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| 14. |
Wikipedia article Wikipedia EN (SLC34A3)
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