Slc16a2

Rattus norvegicus

Enables thyroid hormone transmembrane transporter activity. Involved in hormone transport. Located in apical plasma membrane. Human ortholog(s) of this gene implicated in Allan-Herndon-Dudley syndrome and intellectual disability. Orthologous to human SLC16A2 (solute carrier family 16 member 2); INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.

Slc16a2

Homo sapiens

This gene encodes 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. [provided by RefSeq, Mar 2012]