junction plakoglobin
Zuletzt aktualisiert 11 Apr 2023
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der JUP gene provides instructions for making a protein called plakoglobin. This protein is found primarily in cells of the heart and skin, where it is part of two specialized structures called adherens junctions and desmosomes. Both of these structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).
Normal function
Der JUP gene provides instructions for making a protein called plakoglobin. This protein is found primarily in cells of the heart and skin, where it is part of two specialized structures called adherens junctions and desmosomes. Both of these structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).
Studies suggest that plakoglobin also plays a role in signaling within cells as part of the Wnt pathway. Wnt signaling controls the activity of certain genes and regulates the interactions between cells. This signaling pathway is involved in many aspects of development, including the normal development of the heart, skin, and hair.
Conditions referring to this gene or chromosome
Other names
ARVD12
catenin (cadherin-associated protein), gamma 80kDa
CTNNG
desmoplakin III
desmoplakin-3
DP3
DPIII
PDGB
PKGB
plakoglobin
Related patient information and medicines
Patient information leaflet
Parkinson-Krankheit
Research into Parkinson disease Research into PD is active. For example, one main aim of research is to find medicines that prevent the damage to the affected cells, rather than just treating the symptoms, which is t... Research is underway using stem cell therapy to help treat PD. Other researchers are looking at alpha synuclein, a protein that.
Patient information leaflet
Barrett-Ösophagus
Verwirrung Barrett-Ösophagus the cells that line the lower gullet (oesophagus) are abnormal. The main cause is long-standing reflux of acid from the stomach into the oesophagus. People with Barrett's oesophagus have an increased risk of developing cancer of the oesophagus. The risk is small. However, you may be advised to have regular endoscopies to.
Patient information leaflet
Harnwegsinfektion bei Kindern
Stress or emotional problems may be the underlying cause. An abnormality of the urinary tract - structural abnormalities can cause retention of urine. The most common condition is called vesicoureteric reflux. This is a structural problem at the junction where the ureter tube enters the bladder. In this condition, urine is passed back (refluxes).
Patient information leaflet
Dysphagie
See your doctor as soon as p... This is because a serious condition such as cancer of the gullet (oesophagus) can be the cause. As a general rule, the earlier a serious problem is diagnosed, the better the chance that treatment may improve the outlook (prognosis). This leaflet discusses the main causes of dysphagia. What is dysphagia. Dysphagia is.
Patient information leaflet
Säurereflux und Ösophagitis
In some people their oesophagus lining is more sensitive than others, so some people will develop symptoms with only a small amount of reflux whilst other people may have higher levels of acid reflux without developing oesophagitis or other symptoms. This leaflet is about acid reflux and oesophagitis in adults. For information about reflux in.
Patient information leaflet
Mallory-Weiss-Riss
Mallory-Weiss syndrome (also called Mallory-Weiss tear) is the name given to bleeding and other symptoms caused by a tear in the lining of the upper part of the gut (gastrointestinal tract). It is usually diagnosed by having a test called a gastroscopy (endoscopy). The tear usually occurs at one of two particular places in the upper gut: The.
Weiterführende Lektüre und Referenzen
- junction plakoglobin; MedlinePlus, National Library of Medicine.
- Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. doi: 10.1086/521633. Epub 2007 Sep 28.
- Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010 Jun;130(6):1543-50. doi: 10.1038/jid.2010.7. Epub 2010 Feb 4.
- Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol. 2011 Oct;165(4):917-21. doi: 10.1111/j.1365-2133.2011.10455.x. Epub 2011 Aug 9.
- McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140-6736(00)02379-5.
- Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.
- Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
11 Apr 2023 | Neueste Version
1 Nov 2015 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.