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SLC16A2 / MCT8 is an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and 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. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome.
Gene Name: | solute carrier family 16, member 2 (thyroid hormone transporter) |
Family/Subfamily: | Transporter , Monocarboxylic acid transporter |
Synonyms: | SLC16A2, Allan-Herndon-Dudley syndrome, AHDS, DXS128E, DXS128, MCT8, Monocarboxylate transporter 7, Monocarboxylate transporter 8, MCT 7, MCT 8, MRX22, XPCT, MCT7 |
Target Sequences: | NM_006517 NP_006508.2 P36021 |
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