Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Solute carrier family 26, member 6

The gene product of the SLC26A6 is an oxalate transporter. Mutations in this gene are probably responsible for nephrolithiasis that is associatedwith chronic diarrhea.

Genetests:

Research 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:

Nephrolithiasis diarrhea syndrome
SLC26A6

References:

1.

Jiang Z et al. (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6.

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2.

None (2006) A key stone cop regulates oxalate homeostasis.

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3.

None (2009) Recent advances in the pathophysiology of nephrolithiasis.

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4.

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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5.

Waldegger S et al. (2001) Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

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6.

Chernova MN et al. (2005) Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity.

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7.

Markovich D et al. (2007) Specificity and regulation of renal sulfate transporters.

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8.

Soleimani M et al. (2006) SLC26 chloride/base exchangers in the kidney in health and disease.

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9.

None (2006) Overview of the SLC26 family and associated diseases.

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10.

Sindić A et al. (2007) Renal physiology of SLC26 anion exchangers.

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11.

NCBI article

NCBI 65010 [^]
12.

OMIM.ORG article

Omim 610068 [^]
13.

Wikipedia article

Wikipedia EN (SLC26A6) [^]
Update: April 29, 2019