| 1 | CJMG, SLC16A12 |
| Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. | |
| Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B. | |
| Hum Mol Genet 26(21):4203-4214. doi: 10.1093/hmg/ddx310. 2017 | |
| 2 | CJMG, SLC16A12 |
| Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. | |
| Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ. | |
| Invest Ophthalmol Vis Sci 52(9):6774-84. doi: 10.1167/iovs.10-6579. 2011 | |
| 3 | SLC16A12, CJMG |
| Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. | |
| Kloeckener-Gruissem B, Vandekerckhove K, NŸrnberg G, Neidhardt J, Zeitz C, NŸrnberg P, Schipper I, Berger W. | |
| Am J Hum Genet 82(3):772-9. Epub 2008 Feb 14. 2008 | |