Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Urate transporter

Mutations of this renal urate transporter cause hypouricemia by hyperuricuria, which results in urate kidney stones.

Genetests:

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 15 days
Specimen type genomic DNA

Related Diseases:

Renal Hypouricemia
SLC22A12
SLC2A9

References:

1.

Capasso G et al. (2005) Uric acid and the kidney: urate transport, stone disease and progressive renal failure.

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2.

Mount DB et al. (2006) Renal urate transport.

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3.

Orphanet article

Orphanet ID 166795 [^]
4.

NCBI article

NCBI 116085 [^]
5.

OMIM.ORG article

Omim 607096 [^]
6.

Wikipedia article

Wikipedia EN (SLC22A12) [^]
Update: April 29, 2019