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Thyroid Hormone Transporters and Resistance
被引：24
|作者：
Visser, Theo J.
[1
]
机构：
[1] Erasmus Univ, Med Ctr, Dept Internal Med, NL-3015 GE Rotterdam, Netherlands
来源：
HORMONE RESISTANCE AND HYPERSENSITIVITY: FROM GENETICS TO CLINICAL MANAGEMENT
|
2013年
/
24卷
关键词：
MONOCARBOXYLATE TRANSPORTER-8;
PSYCHOMOTOR RETARDATION;
MOLECULAR-BASIS;
BRAIN-DEVELOPMENT;
MICE DEFICIENT;
MUTATIONS;
MCT8;
EXPRESSION;
PHENOTYPE;
IDENTIFICATION;
D O I：
10.1159/000343695
中图分类号：
R5 [内科学];
学科分类号：
1002 ;
100201 ;
摘要：
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 (C) 2013 S. Karger AG, Basel
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页码：1 / 10
页数：10
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