Assignment of human platelet GP2B (GPIIb) gene to chromosome 17, region q21.1-q21.3.
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.
Cong
N V
NV
Clinique et Unité de Recherches de Génétique Médicale (INSERM U. 12), Hôpital des Enfants-Malades, Paris, France.
Uzan
G
G
Gross
M S
MS
Jegou-Foubert
C
C
Frachet
P
P
Boucheix
C
C
Marguerie
G
G
Frézal
J
J
D001792:Blood Platelets / Q000032:analysis*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D006801:Humans; D039421:Integrin alpha2; D007621:Karyotyping; D008562:Membrane Glycoproteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D019038:Platelet Glycoprotein GPIb-IX Complex; D010980:Platelet Membrane Glycoproteins; D011971:Receptors, Immunologic / Q000235:genetics*
D015342:DNA Probes; C056564:ITGA2B protein, human; D039421:Integrin alpha2; D008562:Membrane Glycoproteins; D019038:Platelet Glycoprotein GPIb-IX Complex; D010980:Platelet Membrane Glycoproteins; D011971:Receptors, Immunologic; C032193:glycoprotein receptor GPIb-IX