人类血小板糖蛋白2B（GPIIb）基因定位于17号染色体q21.1 - q21.3区域。
Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3.
作者信息
Cong N V, Uzan G, Gross M S, Jegou-Foubert C, Frachet P, Boucheix C, Marguerie G, Frézal J
机构信息
Clinique et Unité de Recherches de Génétique Médicale (INSERM U. 12), Hôpital des Enfants-Malades, Paris, France.
出版信息
Hum Genet. 1988 Dec;80(4):389-92. doi: 10.1007/BF00273658.
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 alpha subunit), which consists of two disulfide-linked heavy and light chains, and GPIIIa (the beta 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-bp GP2B (GPIIb) cDNA probe prepared from human megakaryocytes.
血小板糖蛋白IIb-IIIa复合物在活化血小板上作为纤维蛋白原、纤连蛋白和血管性血友病因子的受体发挥作用。这种糖蛋白是广泛分布的一类结构和免疫相关膜受体家族的成员，参与细胞间接触和细胞与基质的相互作用。糖蛋白IIb-IIIa是一种异二聚体复合物，由糖蛋白IIb（α亚基）和糖蛋白IIIa（β亚基）组成，糖蛋白IIb由两条通过二硫键连接的重链和轻链组成，糖蛋白IIIa是一条单多肽链。在Glanzmann血小板无力症中，血小板糖蛋白IIb-IIIa先天性缺失会导致严重的出血性疾病，其特征为血小板聚集缺陷以及纤维蛋白原无法与血小板结合。通过用人巨核细胞制备的2650bp GP2B（糖蛋白IIb）cDNA探针进行原位杂交确定，编码糖蛋白IIb的基因位于17q21.1-17q21.3。
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