Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2004

Komoda Fusako, Sekine Takashi, Inatomi Jun, Enomoto Atsushi, Endou Hitoshi, Ota Toshiyuki, Matsuyama Takeshi, Ogata Tsutomu, Ikeda Masahiro, Awazu Midori, Muroya Koji, Kamimaki Isamu, Igarashi Takashi

Abstract excerpt

Recently, a urate transporter, hURAT1 (human uric acid transporter 1) encoded by SLC22A12, was isolated from the human kidney. hURAT1 is presumed to play the central role in reabsorption of urate from glomerular filtrate. In the present study, we analyzed SLC22A12 in seven unrelated Japanese patients with renal hypouricemia whose serum level of urate was less than 1.0 mg/dl, and their family members. We performed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases

Share to Metabolic Diseases

Share to Organic Anion Transporters

Share to Organic Cation Transport Proteins

Share to Uric Acid

Source

Identifiers

PMID: 15054642
DOI: 10.1007/s00467-004-1424-1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.PMID 15054642Read ↗

Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.Semantic proximity Read ↗

A case of renal hypouricemia caused by urate transporter 1 gene mutations.Semantic proximity Read ↗

A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.Semantic proximity Read ↗

Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian populationSemantic proximity Read ↗

Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.Semantic proximity Read ↗

Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.Semantic proximity Read ↗

A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.Semantic proximity Read ↗

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.Semantic proximity Read ↗

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.Semantic proximity Read ↗

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.Semantic proximity Read ↗

Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.Semantic proximity Read ↗

Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.