Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SLC26A1 gene encodes an anion tranporter expressed in nephron tubuli. Mutations of the gene cause an recessive predisposition for kidney stones.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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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