Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SLC34A2 gene encodes a a sodium-phosphate transporter that is predominantly expressed in alveolar epithelial cells type 2 but also found in various other tissues including mammary gland, and to a lesser extent in intestine, kidney, skin, prostate and testes. Mutations cause autosomal recessive pulmonary alveolar microlithiasis.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Senyiğit A et al. (2001) Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey. 
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| 2. |
Corut A et al. (2006) Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
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| 3. |
Feild JA et al. (1999) Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine.
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| 4. |
Traebert M et al. (1999) Expression of type II Na-P(i) cotransporter in alveolar type II cells.
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| 5. |
Hashimoto M et al. (2000) Isolation and localization of type IIb Na/Pi cotransporter in the developing rat lung.
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| 6. |
Orphanet article Orphanet ID 118831
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| 7. |
NCBI article NCBI 10568
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| 8. |
OMIM.ORG article Omim 604217
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| 9. |
Wikipedia article Wikipedia EN (SLC34A2)
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