Urate transporter
Mutations of this renal urate transporter cause hypouricemia by hyperuricuria, which results in urate kidney stones.
Genetests:
Related Diseases:
References:
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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
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4. |
NCBI article
NCBI 116085
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5. |
OMIM.ORG article
Omim 607096
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6. |
Wikipedia article
Wikipedia EN (SLC22A12)
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Update: Aug. 14, 2020