SLC16A2
SLC16A2 (Solute Carrier Family 16 Member 2), also known as Monocarboxylate Transporter 8 (MCT8), is a protein that in humans is encoded by the SLC16A2 gene. It is a member of the solute carrier family and plays a significant role in the transport of thyroid hormones.
Function[edit | edit source]
SLC16A2 is a thyroid hormone transporter. Thyroid hormones, including 3,3',5-triiodothyronine (T3) and thyroxine (T4), are essential for normal development and metabolic homeostasis in all vertebrates. SLC16A2 is one of the several transporters that are capable of transporting these hormones.
Clinical significance[edit | edit source]
Mutations in the SLC16A2 gene are associated with Allan-Herndon-Dudley syndrome, a rare X-linked recessive disorder characterized by moderate to severe mental retardation, dysarthria, athetosis, muscle hypoplasia, and spastic paraplegia.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- SLC16A2 at the US National Library of Medicine Medical Subject Headings (MeSH)
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