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Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney

Type of publication Peer-reviewed
Publikationsform Original article (peer-reviewed)
Author Verouti Sophia N., Lambert Delphine, Mathis Déborah, Pathare Ganesh, Escher Geneviève, Vogt Bruno, Fuster Daniel G.,
Project Mechanisms of thiazide-induced glucose intolerance
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Original article (peer-reviewed)

Journal American Journal of Physiology-Renal Physiology
Volume (Issue) 320(3)
Page(s) F351 - F358
Title of proceedings American Journal of Physiology-Renal Physiology
DOI 10.1152/ajprenal.00475.2020

Open Access

URL www.boris.unibe.ch
Type of Open Access Repository (Green Open Access)

Abstract

SLC16A12 is a recently identified creatine transporter of unknown physiological function. A heterozygous mutation in the human SLC16A12 gene causes juvenile cataracts and reduced plasma guanidinoacetate (GAA) levels with an increased fractional urinary excretion of GAA. Our study with transgenic SLC16A12-deficient rats reveals that SLC16A12 is critical for tubular reabsorption of creatine and GAA in the kidney. Our data furthermore indicate a dominant-negative mechanism underlying the phenotype of humans affected by the heterozygous SLC16A12 mutation.
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