pericentrin
Ultimo aggiornamento 8 maggio 2023
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L PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.
Normal function
L PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.
Pericentrin acts as an anchoring protein, securing proteins to the centrosome that are necessary for its function. Through its interactions with these proteins, pericentrin is involved in the regulation of the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.
Conditions referring to this gene or chromosome
Altri nomi
PCN
PCNT2
PCNT_HUMAN
PCNTB
pericentrin B
pericentrin-2
Ulteriori letture e riferimenti
- pericentrin; MedlinePlus, National Library of Medicine.
- Delaval B, Doxsey SJ. Pericentrin in cellular function and disease. J Cell Biol. 2010 Jan 25;188(2):181-90. doi: 10.1083/jcb.200908114. Epub 2009 Dec 1.
- Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dorr HG, Reis A. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.
- Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.
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