solute carrier family 26 member 4
آخر تحديث 3 Apr 2025
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
ال SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, across cell membranes. Pendrin is produced in several organs and tissues, particularly the inner ear and thyroid gland.
Normal function
ال SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, across cell membranes. Pendrin is produced in several organs and tissues, particularly the inner ear and thyroid gland.
The thyroid gland is a butterfly-shaped organ at the base of the neck that releases hormones to help regulate growth and the rate of chemical reactions in the body (metabolism). In the thyroid, pendrin is believed to transport iodide ions out of certain cells. Iodide is needed for the normal production of thyroid hormones.
In the inner ear, pendrin likely helps control the proper balance of ions, including chloride and bicarbonate. Maintaining the proper levels of these ions appears to be particularly important during development of the inner ear, and it may influence the shape of bony structures such as the cochlea and vestibular aqueduct. The cochlea is a snail-shaped structure that helps process sound. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull.
Pendrin is also found in other tissues, including the kidneys, liver, and lining of the airways. Researchers are studying the role of pendrin's ion transport function in these tissues.
Conditions referring to this gene or chromosome
Other names
PDS
pendrin
S26A4_HUMAN
solute carrier family 26 (anion exchanger), member 4
solute carrier family 26, member 4
Related patient information and medicines
Patient information leaflet
داء ترسب الأصبغة الدموية
Haemochromatosis is an inherited (genetic) disorder which causes the body to absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. The main treat... Because of the risk of developing a serious complication such as cirrhosis, treatment to remove iron buildup from the body is very important even if there.
Patient information leaflet
التليف الكيسي
What causes cystic fibrosis. Cystic fibrosis is a genetic disorder. A genetic disorder is one that can be passed on from your parents through your genes. How is cystic fibrosis inherited. التليف الكيسي هو autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inherit two cystic fibrosis genes, one from.
Patient information leaflet
تكور الدم الوراثي
Hereditary spherocytosis (HS) هو 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
مرض ويلسون
When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in other parts of the body, mainly the brain. How is Wilson's disease inherited. مرض ويلسون هو an autosomal recessive disorder. This means that, in order to develop Wilson's disease, two abnormal ATP7B genes must be.
Patient information leaflet
التخطيط للحمل
Folic acid supplements F olic acid tablets (supplements) should be started as soon as contraception is stopped when. It should ideally be continued from at least one month before becoming pregnant until at least the end of the 12th week of pregnancy. This is important for all women, even those who are healthy and have a good diet. It is important.
Patient information leaflet
ضمور العضلات الدوشيني
. 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;.
قراءة إضافية ومراجع
- solute carrier family 26 member 4; MedlinePlus, National Library of Medicine.
- Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabedian EN, Couderc R, Marlin S, Denoyelle F. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611.
- Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Botta G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M. Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol. 2009 Sep;43(3):93-103. doi: 10.1677/JME-08-0175. Epub 2009 Jul 16.
- Fang Y, Gu M, Wang C, Suo F, Wang G, Xia Y. GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness. Cell Biochem Biophys. 2015 Sep;73(1):41-4. doi: 10.1007/s12013-015-0562-3.
- Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18.
- Kopp P. Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia. J Clin Endocrinol Metab. 2014 Jan;99(1):67-9. doi: 10.1210/jc.2013-4319. No abstract available.
- Kuhnen P, Turan S, Frohler S, Guran T, Abali S, Biebermann H, Bereket A, Gruters A, Chen W, Krude H. Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab. 2014 Jan;99(1):E169-76. doi: 10.1210/jc.2013-2619. Epub 2013 Dec 20.
- Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. doi: 10.1038/ng0398-215. No abstract available.
- Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999 Apr;21(4):440-3. doi: 10.1038/7783.
- Tsukada K, Nishio SY, Hattori M, Usami S. Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:61S-76S. doi: 10.1177/0003489415575060.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
3 Apr 2025 | أحدث إصدار
1 Mar 2016 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.