期刊
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
卷 28, 期 3, 页码 485-490出版社
KARGER
DOI: 10.1159/000335103
关键词
Pendred syndrome; Pendrin; SLC26A4; Thyroid hormone synthesis; Goiter; Hypothyroidism
Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial organification defect of iodide. It is caused by biallelic mutations in the multifunctional anion transporter pendrin/SLC26A4. In human thyroid tissue, pendrin is localized at the apical membrane of thyroid follicular cells. The clinical phenotype of patients with Pendred syndrome and the fact that pendrin can mediate iodide efflux in transfected cells suggest that this anion exchanger may be involved in mediating iodide efflux into the follicular lumen, a key step in thyroid hormone biosynthesis. This concept has, however, been questioned. This review discusses supporting evidence as well as arguments questioning a role of pendrin in mediating iodide efflux in thyrocytes. Copyright (C) 2011 S. Karger AG, Basel
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