Abstract
Cellular entry is an important step preceding intracellular metabolism and action of thyroid hormone (TH). Transport of TH across the plasma membrane does not take place by simple diffusion but requires transporter proteins. One of the most effective and specific TH transporters identified to date is monocarboxylate transporter 8 (MCT8), the gene of which is located on the X chromosome. Although MCT8 is expressed in many tissues, its function appears to be most critical in the brain. Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels. AHDS thus represents a type of TH resistance caused by a defect in cellular TH transport.
Copyright © 2013 S. Karger AG, Basel.
MeSH terms
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Amino Acid Sequence
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Amino Acid Transport Systems, Neutral / genetics
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Amino Acid Transport Systems, Neutral / metabolism
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Biological Transport / genetics
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Humans
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Male
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Mental Retardation, X-Linked / genetics
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Mental Retardation, X-Linked / metabolism
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Models, Biological
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Molecular Sequence Data
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Monocarboxylic Acid Transporters / genetics
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Monocarboxylic Acid Transporters / metabolism
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Monocarboxylic Acid Transporters / physiology*
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Muscle Hypotonia / genetics
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Muscle Hypotonia / metabolism
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Muscular Atrophy / genetics
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Muscular Atrophy / metabolism
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Receptors, Thyroid Hormone / genetics
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Receptors, Thyroid Hormone / metabolism
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Receptors, Thyroid Hormone / physiology
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Symporters
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Thyroid Hormone Resistance Syndrome / etiology*
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Thyroid Hormone Resistance Syndrome / genetics
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Thyroid Hormone Resistance Syndrome / metabolism
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Thyroid Hormones / metabolism*
Substances
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Amino Acid Transport Systems, Neutral
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Monocarboxylic Acid Transporters
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Receptors, Thyroid Hormone
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SLC16A10 protein, human
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SLC16A2 protein, human
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Symporters
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Thyroid Hormones
Supplementary concepts
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Allan-Herndon-Dudley syndrome