靶标:
SLC16A2
产品别名:
AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7; MCT8; MRX22; XPCT; SLC16A2; solute carrier family 16 member 2; solute carrier family 16 member 2; monocarboxylate transporter 8; X-linked PEST-containing transporter; monocarboxylate transporter 7; solute carrier family 16, member 2 (thyroid hormone transporter); 甲状腺激素转运蛋白/单羧酸转运蛋白7/8;
背景信息:
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],