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Solute carrier family 2 (facilitated glucose transporter), member 9

This gene encodes a glucose transporter. The transporter is responsible for urat elemination from renal epithelial cells. Mutation cause an accumulation of urat in these cells. An impaired glucose metabolism can be expected too.

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 25 days
Specimen type genomic DNA

Related Diseases:

Renal Hypouricemia
SLC22A12
SLC2A9

References:

1.

Döring A et al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

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2.

Vitart V et al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

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3.

Matsuo H et al. (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

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4.

Phay JE et al. (2000) Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).

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5.

Augustin R et al. (2004) Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking.

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6.

Wallace C et al. (2008) Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

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7.

Anzai N et al. (2008) Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans.

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8.

Preitner F et al. (2009) Glut9 is a major regulator of urate homeostasis and its genetic inactivation induces hyperuricosuria and urate nephropathy.

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9.

NCBI article

NCBI 56606 external link
10.

OMIM.ORG article

Omim 606142 external link
11.

Orphanet article

Orphanet ID 171045 external link
12.

Wikipedia article

Wikipedia EN (SLC2A9) external link
Update: Aug. 14, 2020
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