plectin
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L PLEC gene provides instructions for making a protein called plectin. This protein is produced in many different tissues in the body, including skin and muscle. Within cells, plectin interacts with several molecules that make up the cell's structural framework (the cytoskeleton). For example, plectin interacts with intermediate filaments, which form networks that provide support and strength to cells. Plectin attaches (cross-links) intermediate filaments to one another and to the cell membrane.
Normal function
L PLEC gene provides instructions for making a protein called plectin. This protein is produced in many different tissues in the body, including skin and muscle. Within cells, plectin interacts with several molecules that make up the cell's structural framework (the cytoskeleton). For example, plectin interacts with intermediate filaments, which form networks that provide support and strength to cells. Plectin attaches (cross-links) intermediate filaments to one another and to the cell membrane.
The exact function of plectin in different tissues is unclear. In skin cells, this protein is an essential part of structures called hemidesmosomes, which attach the network of intermediate filaments to the cell membrane. It is also a component of desmosomes, which form junctions between neighboring cells. As part of these structures, plectin plays a critical role in anchoring the outer layer of the skin (the epidermis) to underlying layers.
Conditions referring to this gene or chromosome
Altri nomi
EBS1
EBSO
HD1
hemidesmosomal protein 1
PCN
PLEC1
PLEC1_HUMAN
plectin 1
plectin 1, intermediate filament binding protein 500kDa
Plectin-11
PLTN
Ulteriori letture e riferimenti
- plectin; MedlinePlus, National Library of Medicine.
- Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202.
- Kiritsi D, Pigors M, Tantcheva-Poor I, Wessel C, Arin MJ, Kohlhase J, Bruckner-Tuderman L, Has C. Epidermolysis bullosa simplex ogna revisited. J Invest Dermatol. 2013 Jan;133(1):270-3. doi: 10.1038/jid.2012.248. Epub 2012 Aug 2. No abstract available.
- Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol. 2002 Jan;118(1):87-93. doi: 10.1046/j.0022-202x.2001.01591.x.
- Koss-Harnes D, Hoyheim B, Jonkman MF, de Groot WP, de Weerdt CJ, Nikolic B, Wiche G, Gedde-Dahl T Jr. Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. Acta Derm Venereol. 2004;84(2):124-31. doi: 10.1080/00015550310007094.
- McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RA, Shimizu H. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve. 2007 Jan;35(1):24-35. doi: 10.1002/mus.20655.
- Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn. 2005 Feb;7(1):28-35. doi: 10.1016/S1525-1578(10)60005-0.
- Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x.
- Rezniczek GA, Walko G, Wiche G. Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Dermatol Clin. 2010 Jan;28(1):33-41. doi: 10.1016/j.det.2009.10.004.
- Uitto J, Pulkkinen L, Smith FJ, McLean WH. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol. 1996 Oct;5(5):237-46. doi: 10.1111/j.1600-0625.1996.tb00124.x.
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