Integrin alpha-2
The ITGA2 gene encodes a transmembane protein that binds collagen, stabilizes the extracellular matrix, and is involved in platelet aggregation. Mutations cause autosomal dominant platelet-type bleeding disorder 9.
Genetests:
Related Diseases:
References:
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Nieuwenhuis HK et al. () Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia.
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Inoue O et al. (2003) Integrin alpha2beta1 mediates outside-in regulation of platelet spreading on collagen through activation of Src kinases and PLCgamma2.
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von Beckerath N et al. (2000) Glycoprotein Ia gene C807T polymorphism and risk for major adverse cardiac events within the first 30 days after coronary artery stenting.
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Santoso S et al. (1999) A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.
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Carlsson LE et al. (1999) The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients.
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Santoso S et al. (1999) Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients.
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7. |
Kritzik M et al. (1998) Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density.
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Kunicki TJ et al. (1997) Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence.
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Kiefel V et al. (1988) A new platelet-specific alloantigen Bra. Report of 4 cases with neonatal alloimmune thrombocytopenia.
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Woods VL et al. (1989) Antigenic polymorphism of human very late activation protein-2 (platelet glycoprotein Ia-IIa). Platelet alloantigen Hca.
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Mueller-Eckhardt C et al. (1989) 348 cases of suspected neonatal alloimmune thrombocytopenia.
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Takada Y et al. (1989) The primary structure of the VLA-2/collagen receptor alpha 2 subunit (platelet GPIa): homology to other integrins and the presence of a possible collagen-binding domain.
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Kiefel V et al. (1991) Neonatal alloimmune thrombocytopenia due to anti-Brb (HPA-5a). Report of three cases in two families.
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14. |
Bettaieb A et al. (1991) Brb, a platelet alloantigen involved in neonatal alloimmune thrombocytopenia.
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15. |
Kaplan C et al. (1991) HPA-5b (Br(a)) neonatal alloimmune thrombocytopenia: clinical and immunological analysis of 39 cases.
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Jaspers M et al. (1991) Localization of the gene encoding the alpha 2 subunit of the human VLA-2 receptor to chromosome 5q23-31.
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Noris P et al. (2006) Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.
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18. |
Santoso S et al. (1993) The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2).
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Orphanet article
Orphanet ID 328915
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NCBI article
NCBI 3673
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OMIM.ORG article
Omim 192974
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Wikipedia article
Wikipedia EN (Integrin_alpha_2)
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Update: Aug. 14, 2020