cadherin related 23
آخر تحديث 20 مارس 2023
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ال CDH23 gene provides instructions for making cadherin 23, a type of protein that helps cells stick together. Different versions of this protein are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.
Normal function
ال CDH23 gene provides instructions for making cadherin 23, a type of protein that helps cells stick together. Different versions of this protein are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.
Research suggests that the cadherin 23 protein complex helps to shape structures in the inner ear called hair bundles. These structures are made of stereocilia, which are hairlike projections that bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which are then transmitted to the brain. Stereocilia are also elements of the vestibular system, the part of the inner ear that helps maintain the body's balance and orientation in space. Bending of these stereocilia is needed to transmit signals from the vestibular system to the brain.
In the retina, the role of the cadherin 23 protein complex is less well understood. Studies suggest that it plays a critical role in the function of photoreceptor cells, which are specialized cells that detect light and colour.
Conditions referring to this gene or chromosome
Other names
CAD23_HUMAN
cadherin-23
cadherin-like 23
cadherin-related 23
CDHR23
DFNB12
KIAA1774
KIAA1812
otocadherin
USH1D
Related patient information and medicines
Patient information leaflet
الحمل العنقودي
One chromosome from each pair هو inherited from your mother and the other is موروث from your father. This code determines what you look like, how your body functions, whether you are male or female and sometimes even whe... However, the reproductive cells - eggs (ova) in women و sperm in men - only have 23 chromosomes. This is so that, when.
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هل يمكنني تناول ميرابيغرون وريفاروكسابان معًا؟
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هل يمكنني تناول أتورفاستاتين وتامسولوسين معًا؟
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متلازمة بكاء القط
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Each cell of ... In general, each cell in your body contains 46 chromosomes arranged in 23 pairs. One chromosome from each pair is inherited.
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هل يمكنني تناول لانزوبرازول وكويتيابين معًا؟
Taking lansoprazole and quetiapine together may increase the risk of a rare but serious heart rhythm problem. لدينا مدقق تفاعلات الأدوية helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. إخلاء المسؤولية This information is for general educational purposes only and should ليست be.
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بزل السلى
The most common reason for a pregnant woman to be offered amniocentesis is to see if a developing baby has a chromosomal disorder such as Down's syndrome. Amniocentesis is a procedure that is carried out during pregnancyA note about DNA, genes and chromosomes In most cells of your body you have 46 chromosomes arranged in 23 pairs. 22 of the pairs.
قراءة إضافية ومراجع
- cadherin related 23; MedlinePlus, National Library of Medicine.
- Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19.
- Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667.
- Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21.
- Miyagawa M, Nishio SY, Usami S. Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One. 2012;7(8):e40366. doi: 10.1371/journal.pone.0040366. Epub 2012 Aug 10.
- Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.
- Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.
- Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Muller U. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature. 2004 Apr 29;428(6986):950-5. doi: 10.1038/nature02483. Epub 2004 Mar 31.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
20 مارس 2023 | أحدث إصدار
1 May 2016 | نُشر في الأصل
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