Official Full Name
solute carrier family 16, member 2 (thyroid hormone transporter)
This gene encodes an integral membrane protein transporter of thyroid hormone; specifically, cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues including brain, heart, placenta, lung, kidney, skeletal muscle, and liver. This gene likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation.
SLC16A2; solute carrier family 16, member 2 (thyroid hormone transporter); AHDS, Allan Herndon Dudley syndrome , DXS128, mental retardation, X linked 22 , MRX22, solute carrier family 16 (monocarboxylic acid transporters), member 2 , solute carrier fa; mct8; monocarboxylate transporter 8; solute carrier family 16, member 2, protein; solute carrier family 16 (monocarboxylic acid transporters), member 2