junction plakoglobin
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A 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
A 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
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Leitura adicional e referências
- 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.
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