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SLC16A12

MIM.611910

MCTs

Monocarboxylate transporters (MCTs) typically have 12 transmembrane domains, intracellular N and C termini, and a large intracellular loop between transmembrane domains 6 and 7.

Pathology

- mutation of solute carrier SLC16A12 in a syndrome combining juvenile cataract with microcornea and renal glucosuria (MIM.612018) (#18304496#)

References

- Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet. 2008 Mar;82(3):772-9. PMID: #18304496#