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Article

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

International journal of molecular sciences - 16 Feb 2021

Toyoda Yu, Pavelcová Kateřina, Bohatá Jana, Ješina Pavel, Kubota Yu, Suzuki Hiroshi, Takada Tappei, Stiburkova Blanka

Abstract excerpt

The ABCG2 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 wild-type-has been reportedly associated with early-onset gout in some populations. However, compared with adult-onset gout, little...

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PMID: 33669292
DOI: 10.3390/ijms22041935
PMCID: PMC7920026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.PMID 33669292Read ↗

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