solute carrier family 5 member 5
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La 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
La 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
Other names
NIS
SC5A5_HUMAN
sodium-iodide symporter
solute carrier family 5 (sodium/iodide cotransporter), member 5
Related patient information and medicines
Patient information leaflet
Hémochromatose
Haemochromatosis is an inherited (genetic) disorder which cause le body à absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. Causes of haemochromatosis Haemochromatosis est a genetic condition. Approximately 1 in 10 people carries one copy of the abnormal gene in Northern Europe and is therefore a.
Patient information leaflet
Maladie de Wilson
It is a rare. It is named after Dr Samuel Wilson who first described the disorder in 1912. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in o... How is Wilson's disease inherited. Maladie de Wilson est an autosomal recessive disorder. This means that, in order to develop.
Patient information leaflet
Sphérocytose héréditaire
Hereditary spherocytosis (HS) est an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen. This usually helps the condition, but increases.
Patient information leaflet
Dystrophie musculaire de Duchenne
. Each person inherits a set of genes from their father and another set from their mother. The genes have been copied from the parents' cells into the child's cells. Genes are found on 'chromosomes', rather like houses on a street. The DMD gene is located on a chromosome called the X chromosome. Boys have one X chromosome and one Y chromosome;.
Patient information leaflet
Maladie polykystique des reins
This is an hereditary condition caused by a faulty gene which is inherited from one parent. Autosomal recessive polycystic kidney disease (ARPKD) This is a rare condition which affects about 1 dans 20,000 people. Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a.
Patient information leaflet
Prévoir de devenir enceinte
Pour women under 35, having babies close together ne pas increase le risks à la mother's health. Folic acid supplements F olic acid tablets (supplements) should be started as soon as contraception is stopped when planning a pregnancy. It should ideally be continued from at least one month before becoming pregnant until at least the end of the.
Lectures complémentaires et références
- 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.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.