Article
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Human mutation - 1 Jul 2013
Capri Yline, Friesema Edith C H, Kersseboom Simone, Touraine Renaud, Monnier Aurélie, Eymard-Pierre Eléonore, Des Portes Vincent, De Michele Giusseppe, Brady Angela F, Boespflug-Tanguy Odile, Visser Theo J, Vaurs-Barriere Catherine
Abstract excerpt
SLC 16A2, the gene for the second member of the solute carrier family 16 (monocarboxylic acid transporter), located on chromosome Xq13.2, encodes a very efficient thyroid hormone transporter: monocarboxylate transporter 8, MCT8. Its loss of function is responsible in males for a continuum of psychomotor retardation ranging from severe (no motor acquisition, no speech) to mild (ability to walk with help and a few...
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