solute carrier family 5 member 5
Última actualización 18 Aug 2020
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El SLC5A5 gene provides instructions for making a protein called sodium (Na)-iodide symporter or NIS. This protein transports iodide, a negatively charged version of iodine, into cells of certain tissues. The NIS protein is found primarily in the thyroid gland, a butterfly-shaped tissue in the lower neck. The thyroid gland produces and releases iodide-containing thyroid hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The NIS protein supports an efficient system that ensures iodine from the diet accumulates in the thyroid gland for the production of thyroid hormones. This system depends on the NIS protein being positioned in the cell membrane, so it can transport iodide from the bloodstream into particular thyroid cells called follicular cells.
Normal function
El SLC5A5 gene provides instructions for making a protein called sodium (Na)-iodide symporter or NIS. This protein transports iodide, a negatively charged version of iodine, into cells of certain tissues. The NIS protein is found primarily in the thyroid gland, a butterfly-shaped tissue in the lower neck. The thyroid gland produces and releases iodide-containing thyroid hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The NIS protein supports an efficient system that ensures iodine from the diet accumulates in the thyroid gland for the production of thyroid hormones. This system depends on the NIS protein being positioned in the cell membrane, so it can transport iodide from the bloodstream into particular thyroid cells called follicular cells.
In addition to the thyroid gland, the NIS protein is found in breast tissue during milk production (lactation), ovaries, salivary glands, certain stomach cells (parietal cells), tear glands (lacrimal glands), and a part of the brain called the choroid plexus. During lactation, the NIS protein transports iodide into the milk to supply breast-fed infants with this critical component of thyroid hormones.
Conditions referring to this gene or chromosome
Otros nombres
NIS
SC5A5_HUMAN
sodium-iodide symporter
solute carrier family 5 (sodium/iodide cotransporter), member 5
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Lecturas adicionales y referencias
- solute carrier family 5 member 5; MedlinePlus, National Library of Medicine.
- De La Vieja A, Dohan O, Levy O, Carrasco N. Molecular analysis of the sodium/iodide symporter: impact on thyroid and extrathyroid pathophysiology. Physiol Rev. 2000 Jul;80(3):1083-105. doi: 10.1152/physrev.2000.80.3.1083.
- Dohan O, Carrasco N. Advances in Na(+)/I(-) symporter (NIS) research in the thyroid and beyond. Mol Cell Endocrinol. 2003 Dec 31;213(1):59-70. doi: 10.1016/j.mce.2003.10.059.
- Dohan O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N. The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. Endocr Rev. 2003 Feb;24(1):48-77. doi: 10.1210/er.2001-0029.
- Nicola JP, Nazar M, Serrano-Nascimento C, Goulart-Silva F, Sobrero G, Testa G, Nunes MT, Munoz L, Miras M, Masini-Repiso AM. Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism. J Clin Endocrinol Metab. 2011 Jul;96(7):E1100-7. doi: 10.1210/jc.2011-0349. Epub 2011 May 11.
- Pohlenz J, Refetoff S. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May;81(5):469-76. doi: 10.1016/s0300-9084(99)80097-2.
- Spitzweg C, Morris JC. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):56-63. doi: 10.1016/j.mce.2010.02.007. Epub 2010 Feb 12.
- Spitzweg C, Morris JC. The sodium iodide symporter: its pathophysiological and therapeutic implications. Clin Endocrinol (Oxf). 2002 Nov;57(5):559-74. doi: 10.1046/j.1365-2265.2002.01640.x.
- Szinnai G, Kosugi S, Derrien C, Lucidarme N, David V, Czernichow P, Polak M. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab. 2006 Apr;91(4):1199-204. doi: 10.1210/jc.2005-1832. Epub 2006 Jan 17.
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