Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3
- 1 December 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 80 (4) , 389-392
- https://doi.org/10.1007/bf00273658
Abstract
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 α subunit), which consists of two disulfide-linked heavy and light chains, and GPIIIa (the β 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.Keywords
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