Article
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
Human molecular genetics - 15 Aug 2013
Abplanalp Jeannette, Laczko Endre, Philp Nancy J, Neidhardt John, Zuercher Jurian, Braun Philipp, Schorderet Daniel F, Munier Francis L, Verrey François, Berger Wolfgang, Camargo Simone M R, Kloeckener-Gruissem Barbara
Abstract excerpt
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12. A non-synonymous alteration in MCT12 (p.G407S) found in a patient with age-related cataract (ARC) leads to a significant...
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