Monocarboxylate transporter 12 (SLC16A12)

Monocarboxylate transporter 12 (SLC16A12) is a multi-pass transmembrane protein of the solute carrier 16 (SLC16) family, containing 12 transmembrane helices, which mediates the facilitated diffusion of creatine and guanidinoacetate across cellular membranes, independent of sodium, chloride, or pH gradients[1][5][10]. It is highly expressed in tissues including the kidney and ocular lens, where it plays a critical role in creatine homeostasis and energy metabolism[5][12][15]. Loss-of-function mutations in SLC16A12 are associated with a syndromic presentation comprising juvenile cataracts, microcornea, and renal glucosuria, while recent evidence implicates impaired creatine or guanidinoacetate transport as a mechanism underlying disease pathology[5][7][13]. Though most disease associations are monogenic and rare, broader implications in cancer or common metabolic diseases are considered for SLC16 family members but not yet established for SLC16A12[3][4][11].

Other names

Monocarboxylate transporter 12MCT12Creatine transporter 2CRT2Solute carrier family 16 member 12monocarboxylic acid transporter 12CJMGCTRCT47