SLC17A3 Chromosome 6
Solute carrier family 17 member 3
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What This Gene Does
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Solute carrier family 17
Locus Type
gene with protein product
Location
6p22.2
Ensembl
ENSG00000124564
Associated Conditions (3)
Uric acid concentration
serum
quantitative trait locus 4
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387907256 | Health Risk | association | Uric acid concentration, serum, quantitative trait locus 4 |
| RS387907257 | Health Risk | risk factor | Uric acid concentration, serum, quantitative trait locus 4 |