Recombinant Human Monocarboxylate transporter 8 (SLC16A2), Truncated

Uniprot Id

P36021

Target Species

Human

Target Name

SLC16A2

Target Full Name

Monocarboxylate transporter 8

Target Function

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.

Target Involvement

Monocarboxylate transporter 8 deficiency (MCT8 deficiency)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein.

Target Protein Families

Major facilitator superfamily, Monocarboxylate porter (TC 2.A.1.13) family

Target Tissue Specificity

Highly expressed in liver and heart.

Target Synonyms

AHDS; DXS 128; DXS 128E; DXS128; DXS128 E; DXS128E; MCT 7; MCT 8; MCT7; MCT8; Monocarboxylate transporter 7; Monocarboxylate transporter 8; MOT 8; MOT8_HUMAN; MRX 22; MRX22; SLC16 A2 ; SLC16A 2; SLC16A2; Solute carrier family 16 (monocarboxylic acid transporters), member 2; Solute carrier family 16 member 2; Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) ; Solute carrier family 16, member 2 (thyroid hormone transporter); Solute carrier family 16, member 2; X linked PEST containing transporter; X-linked PEST-containing transporter; XPCT

Target Background

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.