Mar 30, 2025 · SLC16A2 (Solute Carrier Family 16 Member 2) is a Protein Coding gene. Diseases associated with SLC16A2 include Allan-Herndon-Dudley Syndrome and Pelizaeus-Merzbacher Disease. Among its related pathways are Blood-Brain Barrier: Anatomy and Transport of inorganic cations/anions and amino acids/oligopeptides.

SLC16A2 encodes a high affinity thyroid hormone transporter (MCT8) and SLC16A10 an aromatic amino acid transporter (TAT1). The substrates and roles of the remaining eight members are unknown.

Monocarboxylate transporter 8 (MCT8) is an active transporter protein that in humans is encoded by the SLC16A2 gene. [5][6][7][8] MCT8 actively transports a variety of iodo- thyronines including the thyroid hormones T 3 and T 4. [6]

A mutation in the MCT8 (SLC16A2) gene (located on the X chromosome) causes an X-linked psychomotor intellectual disability, due to limited thyroid hormone uptake at the blood brain barrier, leading to lack of normal brain development.

The SLC16A2 (formerly MCT8) gene is located on chromosome Xq13.2 and has recently been associated with a syndrome combining severe, X-linked, psychomotor retardation and high serum T3 levels. MCT8 plays an important role for proper central nervous system development by transporting TH into neurons as its main target cells.

The SLC16A2 gene (also known as MCT8) provides instructions for making a protein that plays a critical role in nervous system development. This protein transports a particular hormone into nerve cells in the developing brain.

MCT8 deficiency is caused by a genetic mutation in the SLC16A2 gene. This gene provides the instructions that make a protein called monocarboxylate transporter 8 (also known as MCT8). The MCT8 protein is a channel that allows thyroid hormones, most importantly T3, to move from the blood stream into cells of the brain.

Allan-Herndon-Dudley syndrome is caused by genetic changes in the SLC16A2 gene. It is inherited in an X-linked recessive manner. Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement.

Feb 8, 2025 · Enables thyroid hormone transmembrane transporter activity. Involved in thyroid hormone transport. Acts upstream of or within with a negative effect on thyroid hormone generation and thyroid-stimulating hormone secretion. Located in apical plasma membrane.

Jun 28, 2012 · Clinical resource with information about SLC16A2, Allan-Herndon-Dudley syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.