Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-onset Gout

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-onset Gout

The <i>ABCG2</i> gene is a well-established hyperuricemia/gout risk locus encoding a urate transporter that plays a crucial role in renal and intestinal urate excretion. Hitherto, p.Q141K—a common variant of ABCG2 exhibiting approximately one half the cellular function compared to the wi...

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Bibliographic Details
Main Authors: Yu Toyoda, Kateřina Pavelcová, Jana Bohatá, Pavel Ješina, Yu Kubota, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
<i>ABCG2</i> genotype
clinico-genetic analysis
ethnic specificity
genetic variations
precision medicine
rare variant
Online Access:https://www.mdpi.com/1422-0067/22/4/1935

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https://www.mdpi.com/1422-0067/22/4/1935

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