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

Pub. Date : 2021 Mar 1

PMID : 33459166






1 Functional Relationships(s)
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1 A heterozygous mutation (c.643C.A; p.Q215X) in the creatine transporter SLC16A12 was proposed to cause a syndrome with juvenile cataracts, microcornea and glucosuria in humans. Creatine solute carrier family 16 member 12 Homo sapiens