Full name: solute carrier family 16 member 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7; MCT8; MRX22; XPCT

Summary: 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]

Expression: Broad expression in liver (RPKM 21.4), adrenal (RPKM 17.4) and 22 other tissues

Gene size: 112424bp

Exon count: 6