integrin subunit alpha 2b
Zuletzt aktualisiert 11 Apr 2023
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Der ITGA2B gene provides instructions for making one part, the alphaIIb subunit, of a receptor complex called integrin alphaIIb/beta3 (αIIbβ3), which is found on the surface of small cells called platelets. Platelets circulate in blood and are an essential component of blood clots. The alphaIIb subunit attaches (binds) to the beta3 subunit, which is produced from the ITGB3 gene, to form integrin αIIbβ3. It is estimated that 80,000 to 100,000 copies of integrin αIIbβ3 are present on the surface of each platelet.
Normal function
Der ITGA2B gene provides instructions for making one part, the alphaIIb subunit, of a receptor complex called integrin alphaIIb/beta3 (αIIbβ3), which is found on the surface of small cells called platelets. Platelets circulate in blood and are an essential component of blood clots. The alphaIIb subunit attaches (binds) to the beta3 subunit, which is produced from the ITGB3 gene, to form integrin αIIbβ3. It is estimated that 80,000 to 100,000 copies of integrin αIIbβ3 are present on the surface of each platelet.
During clot formation, integrin αIIbβ3 binds to a protein called fibrinogen. Attachment of integrin αIIbβ3 from adjacent platelets to the same fibrinogen protein helps platelets cluster together (platelet cohesion) to form a blood clot. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. Integrin αIIbβ3 can also bind other proteins on platelets and in blood as well as proteins within the intricate lattice that forms in the space between cells (extracellular matrix) to ensure proper clot formation and promote wound healing.
Conditions referring to this gene or chromosome
Other names
alphaIIb protein
CD41
CD41B
GP2B
GPIIb
integrin alpha 2b
integrin alpha-IIb preproprotein
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
integrin, alpha-2B
platelet fibrinogen receptor, alpha subunit
platelet glycoprotein IIb
platelet membrane glycoprotein IIb
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Weiterführende Lektüre und Referenzen
- integrin subunit alpha 2b; MedlinePlus, National Library of Medicine.
- Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011 May 19;117(20):5479-84. doi: 10.1182/blood-2010-12-323691. Epub 2011 Mar 31.
- Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011 Dec 1;118(23):5996-6005. doi: 10.1182/blood-2011-07-365635. Epub 2011 Sep 13.
- Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Negrier C, Nugent D, Oiron RD, Rand ML, Sie P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C. Expanding the Mutation Spectrum Affecting alphaIIbbeta3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.
- Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P. Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the alphaIIbbeta3 integrin. Semin Thromb Hemost. 2011 Sep;37(6):698-706. doi: 10.1055/s-0031-1291380. Epub 2011 Nov 18.
- Pillitteri D, Pilgrimm AK, Kirchmaier CM. Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37(5):268-277. doi: 10.1159/000320258. Epub 2010 Sep 15.
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11 Apr 2023 | Neueste Version
1 Sept 2015 | Ursprünglich veröffentlicht
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