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Article

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

American journal of physiology. Renal physiology - 1 Mar 2021

Verouti Sophia N, Lambert Delphine, Mathis Déborah, Pathare Ganesh, Escher Geneviève, Vogt Bruno, Fuster Daniel G

Abstract excerpt

A heterozygous mutation (c.643C.A; p.Q215X) in the creatine transporter SLC16A12 has been proposed to cause a syndrome with juvenile cataracts, microcornea, and glucosuria in humans. To further explore the role of SLC16A12 in renal physiology and decipher the mechanism underlying the phenotype of humans with the SLC16A12 mutation, we studied Slc16a12 knockout (KO) rats. Slc16a12 KO rats had lower plasma levels...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33459166
DOI: 10.1152/ajprenal.00475.2020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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