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

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