Anti-MCT8

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], Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3- diiodothyronine (3,3'-T2) (PubMed:23550058, PubMed:26426690, PubMed:16887882, PubMed:27805744, PubMed:20628049, PubMed:18337592, PubMed:31436139). Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) (PubMed:28526555). [The UniProt Consortium] Recommended dilutions: Western Blot: 1/500 - 1/2000. ELISA: 1/40000. Not yet tested in other applications.. Cellular localization: Cell membrane , Multi-pass membrane protein .