MCT8 Antibody – Rabbit Polyclonal

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]

SLC16A2: Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr. Defects in SLC16A2 are the cause of monocarboxylate transporter 8 deficiency (MCT8 deficiency); also known as Allan-Herndon-Dudley syndrome (AHDS). MCT8 deficiency consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter, SLC family; Transporter

Chromosomal Location of Human Ortholog: Xq13.2

Cellular Component: membrane; integral to plasma membrane; integral to membrane

Molecular Function: thyroid hormone transmembrane transporter activity; monocarboxylic acid transmembrane transporter activity; transporter activity; symporter activity

Biological Process: monocarboxylic acid transport; transport

Disease: Allan-herndon-dudley Syndrome