Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells

Hum Cell. 2024 Jul;37(4):1231-1234. doi: 10.1007/s13577-024-01079-6. Epub 2024 May 29.

Authors

Yu Toyoda^{1

2}, Tappei Takada², Akiyoshi Nakayama¹, Nariyoshi Shinomiya¹, Hirotaka Matsuo^{3

4}

Affiliations

¹ Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan.
² Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
³ Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan. matsuo29@gmail.com.
⁴ Department of Bioinformation Management, National Defense Medical College Research Institute, Saitama, Japan. matsuo29@gmail.com.

PMID: 38811494
DOI: 10.1007/s13577-024-01079-6

No abstract available

Keywords: GLUT9/SLC2A9; RHUC; Renal hypouricemia; URAT1/SLC22A12; Uric acid.

Publication types

Letter

MeSH terms

Humans
Mutation* / genetics
Organic Anion Transporters* / genetics
Organic Cation Transport Proteins
Renal Tubular Transport, Inborn Errors* / genetics
Uric Acid / metabolism
Urinary Calculi / genetics

Substances

Organic Anion Transporters
Uric Acid
SLC22A12 protein, human
urate transporter
Organic Cation Transport Proteins

Supplementary concepts

Renal hypouricemia

Grants and funding