Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3 |
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| Authors: | Nguyen van Cong G. Uzan M. S. Gross C. Jegou-Foubert P. Frachet C. Boucheix G. Marguerie J. Frézal |
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| Affiliation: | (1) Clinique et Unité de Recherches de Génétique Médicale (INSERM U. 12), Hôpital des Enfants-Malades, 149, Rue de Sèvres, F-75743 Paris Cédex 15, France;(2) DRF/Laboratoire d'Hématologie/INSERM U.217, 85X, F-38041 Grenoble Cédex, France;(3) INSERM U. 268, Hôpital Paul Brousse, 14, Avenue Paul Vaillant-Couturier, F-38041 Villejuif, France |
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| Abstract: | Summary The platelet GPIIb-IIIa complex functions as a receptor for fibrinogen, fibronectin, and von Willebrand factor on activated platelets. This glycoprotein is a member of a broadly distributed family of structurally and immunologically related membrane receptors involved in cell-cell contact and cell-matrices interactions. GPIIb-IIIa is a heterodimer complex composed of GPIIb (the  subunit), which consists of two disulfide-linked heavy and light chains, and GPIIIa (the  subunit), which is a single polypeptide chain. Congenital absence of platelet GPIIb-IIIa in Glanzmann's thrombasthenia results in a severe bleeding disorder characterized by defective platelet aggregation and failure of fibrinogen to bind to platelets. The gene coding for GPIIb was located on 17q21.1-17q21.3 as determined by in situ hybridization with a 2650-pb GP2B (GPIIb) cDNA probe prepared from human megakaryocytes. |
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