cadherin related 23
עודכן לאחרונה 20 מרץ 2023
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ה 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
ה 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
הריון מולרי
One chromosome from each pair מטופל? inherited from your mother and the other is inherited 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) ב women ו sperm ב גברים - only have 23 chromosomes. This is so that, when.
Patient information leaflet
האם אני יכול לקחת מיראברגרון וריברוקסבן יחד?
יש no known direct interaction between mirabegron and rivaroxaban. Taking these two medicines together is generally considered safe and they do not interfere with how each other works in the bodyהבהרה This information is for general educational purposes only ו should not be relied upon as a substitute for professional medical advice..
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האם אני יכול לקחת אטורבסטטין וטמסולוסין יחד?
יש no known direct interaction between atorvastatin and tamsulosin. Using other medicine... Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do about them. Disclaimer.
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תסמונת קרי דו שא
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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האם אני יכול לקחת לנסופרזול וקווטיאפין יחד?
Taking lansoprazole and quetiapine together may increase the risk of a rare but serious heart rhythm problem. Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. הבהרה This information is for general educational purposes only and should נחשבת be.
Patient information leaflet
דיקור מי שפיר
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.
קריאה נוספת והפניות
- 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.
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