desmocollin 2
Última atualização 10 Apr 2023
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes. 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
A DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes. 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).
Conditions referring to this gene or chromosome
Other names
ARVD11
cadherin family member 2
CDHF2
desmocollin-2 isoform Dsc2a preproprotein
desmocollin-2 isoform Dsc2b preproprotein
desmosomal glycoprotein II/III
DG2
DGII/III
DSC3
Related patient information and medicines
Patient information leaflet
Febre glandular
Glandular fever (also known as infectious mononucleosis) é a viral infection that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. Glandular fever is a viral infection, mostly caused by the Epstein-Barr virus. The virus can be passed from person to.
Patient information leaflet
Diabetes tipo 2
Type 2 diabetes can occur at any age, including during childhood, but it occurs mainly in people aged over 40. The first-line treatment is diet, weight control and physical activity. Other treatments include reducing blood pressure if it is high, lowering high cholesterol levels, and also other me... This is called insulin resistance. You can.
Patient information leaflet
Posso tomar Tetraciclina e Cálcio juntos?
Why this happens Thi... Calcium is a multivalent cation that undergoes 'chelation' with tetracycline. They bind together to form an insoluble complex in the digestive tract that is too large to pass through the gut wall. Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions,.
Patient information leaflet
Amigdalite
Tratamento da amigdalite can ease the sintomas until. Medical advice should be sought if the symptoms are severe or don't get better quickly. What causes tonsillitis. However, they do not shorten the illness. Get plenty of rest. See the separate article called 9 home remedies for tonsillitis for more details. Tonsillitis antibiotics Most throat and.
Patient information leaflet
Posso tomar suplementos de ferro e Sedoxil juntos?
Taking iron supplements at the same time as Sedoxil (mexazolam) may reduce how much of the medication your body absorbs. Our Medicines Interaction Checker helps tem hemocromatose check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. ...macist, or another qualified healthcare professional before making.
Patient information leaflet
Amigdalectomia
Tonsillectomy is an operation most often done in childhood; however, it can be done in adults as well. It is a common procedure. See the separate leaflet What do tonsils do. There are other separate leaflets which may be relevant, called Tonsillitis and Sore throat. Benefits of tonsillectomy Tonsils are usually removed because they are causing.
Leitura adicional e referências
- desmocollin 2; MedlinePlus, National Library of Medicine.
- De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2010 Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19. Epub 2010 Mar 3.
- Gehmlich K, Syrris P, Peskett E, Evans A, Ehler E, Asimaki A, Anastasakis A, Tsatsopoulou A, Vouliotis AI, Stefanadis C, Saffitz JE, Protonotarios N, McKenna WJ. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. Cardiovasc Res. 2011 Apr 1;90(1):77-87. doi: 10.1093/cvr/cvq353. Epub 2010 Nov 9.
- Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006 Dec;79(6):1081-8. doi: 10.1086/509044. Epub 2006 Oct 3.
- Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. Am J Cardiol. 2015 Oct 15;116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037. Epub 2015 Jul 28.
- Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29.
- Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006 Nov;79(5):978-84. doi: 10.1086/509122. Epub 2006 Sep 27.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.