Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sulfate anion transporter 1

The SLC26A1 gene encodes an anion tranporter expressed in nephron tubuli. Mutations of the gene cause an recessive predisposition for kidney stones.

Genetests:

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

Related Diseases:

Susceptibility to nephrolithiasis
ALPL
CASR
SLC26A1
TRPV5
ZNF365

References:

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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Update: Sept. 26, 2018