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Identification
HMDB Protein ID HMDBP02103
Secondary Accession Numbers
  • 7585
Name Integrin alpha-IIb
Synonyms
  1. CD41 antigen
  2. GPIIb
  3. GPalpha IIb
  4. Integrin alpha-IIb heavy chain
  5. Integrin alpha-IIb light chain, form 1
  6. Integrin alpha-IIb light chain, form 2
  7. Platelet membrane glycoprotein IIb
Gene Name ITGA2B
Protein Type Enzyme
Biological Properties
General Function Involved in cell adhesion
Specific Function Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface
Pathways
  • Abciximab Action Pathway
  • Eptifibatide Action Pathway
  • Tirofiban Action Pathway
Reactions Not Available
GO Classification
Component
integrin complex
receptor complex
macromolecular complex
protein complex
Process
cell adhesion
cellular process
Cellular Location
  1. Membrane
  2. Single-pass type I membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 17q21.32
SNPs ITGA2B
Gene Sequence
>3120 bp
ATGGCCAGAGCTTTGTGTCCACTGCAAGCCCTCTGGCTTCTGGAGTGGGTGCTGCTGCTC
TTGGGACCTTGTGCTGCCCCTCCAGCCTGGGCCTTGAACCTGGACCCAGTGCAGCTCACC
TTCTATGCAGGCCCCAATGGCAGCCAGTTTGGATTTTCACTGGACTTCCACAAGGACAGC
CATGGGAGAGTGGCCATCGTGGTGGGCGCCCCGCGGACCCTGGGCCCCAGCCAGGAGGAG
ACGGGCGGCGTGTTCCTGTGCCCCTGGAGGGCCGAGGGCGGCCAGTGCCCCTCGCTGCTC
TTTGACCTCCGTGATGAGACCCGAAATGTAGGCTCCCAAACTTTACAAACCTTCAAGGCC
CGCCAAGGACTGGGGGCGTCGGTCGTCAGCTGGAGCGACGTCATTGTGGCCTGCGCCCCC
TGGCAGCACTGGAACGTCCTAGAAAAGACTGAGGAGGCTGAGAAGACGCCCGTAGGTAGC
TGCTTTTTGGCTCAGCCAGAGAGCGGCCGCCGCGCCGAGTACTCCCCCTGTCGCGGGAAC
ACCCTGAGCCGCATTTACGTGGAAAATGATTTTAGCTGGGACAAGCGTTACTGTGAAGCG
GGCTTCAGCTCCGTGGTCACTCAGGCCGGAGAGCTGGTGCTTGGGGCTCCTGGCGGCTAT
TATTTCTTAGGTCTCCTGGCCCAGGCTCCAGTTGCGGATATTTTCTCGAGTTACCGCCCA
GGCATCCTTTTGTGGCACGTGTCCTCCCAGAGCCTCTCCTTTGACTCCAGCAACCCAGAG
TACTTCGACGGCTACTGGGGGTACTCGGTGGCCGTGGGCGAGTTCGACGGGGATCTCAAC
ACTACAGAATATGTCGTCGGTGCCCCCACTTGGAGCTGGACCCTGGGAGCGGTGGAAATT
TTGGATTCCTACTACCAGAGGCTGCATCGGCTGCGCGCAGAGCAGATGGCGTCGTATTTT
GGGCATTCAGTGGCTGTCACTGACGTCAACGGGGATGGGAGGCATGATCTGCTGGTGGGC
GCTCCACTGTATATGGAGAGCCGGGCAGACCGAAAACTGGCCGAAGTGGGGCGTGTGTAT
TTGTTCCTGCAGCCGCGAGGCCCCCACGCGCTGGGTGCCCCCAGCCTCCTGCTGACTGGC
ACACAGCTCTATGGGCGATTCGGCTCTGCCATCGCACCCCTGGGCGACCTCGACCGGGAT
GGCTACAATGACATTGCAGTGGCTGCCCCCTACGGGGGTCCCAGTGGCCGGGGCCAAGTG
CTGGTGTTCCTGGGTCAGAGTGAGGGGCTGAGGTCACGTCCCTCCCAGGTCCTGGACAGC
CCCTTCCCCACAGGCTCTGCCTTTGGCTTCTCCCTTCGAGGTGCCGTAGACATCGATGAC
AACGGATACCCAGACCTGATCGTGGGAGCTTACGGGGCCAACCAGGTGGCTGTGTACAGA
GCTCAGCCAGTGGTGAAGGCCTCTGTCCAGCTACTGGTGCAAGATTCACTGAATCCTGCT
GTGAAGAGCTGTGTCCTACCTCAGACCAAGACACCCGTGAGCTGCTTCAACATCCAGATG
TGTGTTGGAGCCACTGGGCACAACATTCCTCAGAAGCTATCCCTAAATGCCGAGCTGCAG
CTGGACCGGCAGAAGCCCCGCCAGGGCCGGCGGGTGCTGCTGCTGGGCTCTCAACAGGCA
GGCACCACCCTGAACCTGGATCTGGGCGGAAAGCACAGCCCCATCTGCCACACCACCATG
GCCTTCCTTCGAGATGAGGCAGACTTCCGGGACAAGCTGAGCCCCATTGTGCTCAGCCTC
AATGTGTCCCTACCGCCCACGGAGGCTGGAATGGCCCCTGCTGTCGTGCTGCATGGAGAC
ACCCATGTGCAGGAGCAGACACGAATCGTCCTGGACTCTGGGGAAGATGACGTATGTGTG
CCCCAGCTTCAGCTCACTGCCAGCGTGACGGGCTCCCCGCTCCTAGTTGGGGCAGATAAT
GTCCTGGAGCTGCAGATGGACGCAGCCAACGAGGGCGAGGGGGCCTATGAAGCAGAGCTG
GCCGTGCACCTGCCCCAGGGCGCCCACTACATGCGGGCCCTAAGCAATGTCGAGGGCTTT
GAGAGACTCATCTGTAATCAGAAGAAGGAGAATGAGACCAGGGTGGTGCTGTGTGAGCTG
GGCAACCCCATGAAGAAGAACGCCCAGATAGGAATCGCGATGTTGGTGAGCGTGGGGAAT
CTGGAAGAGGCTGGGGAGTCTGTGTCCTTCCAGCTGCAGATACGGAGCAAGAACAGCCAG
AATCCAAACAGCAAGATTGTGCTGCTGGACGTGCCGGTCCGGGCAGAGGCCCAAGTGGAG
CTGCGAGGGAACTCCTTTCCAGCCTCCCTGGTGGTGGCAGCAGAAGAAGGTGAGAGGGAG
CAGAACAGCTTGGACAGCTGGGGACCCAAAGTGGAGCACACCTATGAGCTCCACAACAAT
GGCCCTGGGACTGTGAATGGTCTTCACCTCAGCATCCACCTTCCGGGACAGTCCCAGCCC
TCCGACCTGCTCTACATCCTGGATATACAGCCCCAGGGGGGCCTTCAGTGCTTCCCACAG
CCTCCTGTCAACCCTCTCAAGGTGGACTGGGGGCTGCCCATCCCCAGCCCCTCCCCCATT
CACCCGGCCCATCACAAGCGGGATCGCAGACAGATCTTCCTGCCAGAGCCCGAGCAGCCC
TCGAGGCTTCAGGATCCAGTTCTCGTAAGCTGCGACTCGGCGCCCTGTACTGTGGTGCAG
TGTGACCTGCAGGAGATGGCGCGCGGGCAGCGGGCCATGGTCACGGTGCTGGCCTTCCTG
TGGCTGCCCAGCCTCTACCAGAGGCCTCTGGATCAGTTTGTGCTGCAGTCGCACGCATGG
TTCAACGTGTCCTCCCTCCCCTATGCGGTGCCCCCGCTCAGCCTGCCCCGAGGGGAAGCT
CAGGTGTGGACACAGCTGCTCCGGGCCTTGGAGGAGAGGGCCATTCCAATCTGGTGGGTG
CTGGTGGGTGTGCTGGGTGGCCTGCTGCTGCTCACCATCCTGGTCCTGGCCATGTGGAAG
GTCGGCTTCTTCAAGCGGAACCGGCCACCCCTGGAAGAAGATGATGAAGAGGGGGAGTGA
Protein Properties
Number of Residues 1039
Molecular Weight 113376.0
Theoretical pI 5.03
Pfam Domain Function
Signals
  • 1-31
Transmembrane Regions
  • 994-1019
Protein Sequence
>Integrin alpha-IIb
MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDS
HGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKA
RQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGN
TLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRP
GILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEI
LDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVY
LFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQV
LVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYR
AQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQ
LDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSL
NVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADN
VLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCEL
GNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVE
LRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQP
SDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQP
SRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAW
FNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWK
VGFFKRNRPPLEEDDEEGE
GenBank ID Protein 190068
UniProtKB/Swiss-Prot ID P08514
UniProtKB/Swiss-Prot Entry Name ITA2B_HUMAN
PDB IDs
GenBank Gene ID J02764
GeneCard ID ITGA2B
GenAtlas ID ITGA2B
HGNC ID HGNC:6138
References
General References
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  3. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [PubMed:16625196 ]
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  5. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed:10391209 ]
  6. Poncz M, Eisman R, Heidenreich R, Silver SM, Vilaire G, Surrey S, Schwartz E, Bennett JS: Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors. J Biol Chem. 1987 Jun 25;262(18):8476-82. [PubMed:2439501 ]
  7. Frachet P, Uzan G, Thevenon D, Denarier E, Prandini MH, Marguerie G: GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs. Mol Biol Rep. 1990 Feb;14(1):27-33. [PubMed:2345548 ]
  8. Heidenreich R, Eisman R, Surrey S, Delgrosso K, Bennett JS, Schwartz E, Poncz M: Organization of the gene for platelet glycoprotein IIb. Biochemistry. 1990 Feb 6;29(5):1232-44. [PubMed:2322558 ]
  9. Bray PF, Leung CS, Shuman MA: Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs. J Biol Chem. 1990 Jun 15;265(17):9587-90. [PubMed:2351656 ]
  10. Uzan G, Frachet P, Lajmanovich A, Prandini MH, Denarier E, Duperray A, Loftus J, Ginsberg M, Plow E, Marguerie G: cDNA clones for human platelet GPIIb corresponding to mRNA from megakaryocytes and HEL cells. Evidence for an extensive homology to other Arg-Gly-Asp adhesion receptors. Eur J Biochem. 1988 Jan 15;171(1-2):87-93. [PubMed:3422188 ]
  11. Bray PF, Rosa JP, Johnston GI, Shiu DT, Cook RG, Lau C, Kan YW, McEver RP, Shuman MA: Platelet glycoprotein IIb. Chromosomal localization and tissue expression. J Clin Invest. 1987 Dec;80(6):1812-7. [PubMed:3479442 ]
  12. Prandini MH, Denarier E, Frachet P, Uzan G, Marguerie G: Isolation of the human platelet glycoprotein IIb gene and characterization of the 5' flanking region. Biochem Biophys Res Commun. 1988 Oct 14;156(1):595-601. [PubMed:2845986 ]
  13. Charo IF, Fitzgerald LA, Steiner B, Rall SC Jr, Bekeart LS, Phillips DR: Platelet glycoproteins IIb and IIIa: evidence for a family of immunologically and structurally related glycoproteins in mammalian cells. Proc Natl Acad Sci U S A. 1986 Nov;83(21):8351-5. [PubMed:3534886 ]
  14. Catimel B, Parmentier S, Leung LL, McGregor JL: Separation of important new platelet glycoproteins (GPIa, GPIc, GPIc*, GPIIa and GMP-140) by f.p.l.c. Characterization by monoclonal antibodies and gas-phase sequencing. Biochem J. 1991 Oct 15;279 ( Pt 2):419-25. [PubMed:1953640 ]
  15. Makogonenko EM, Yakubenko VP, Ingham KC, Medved LV: Thermal stability of individual domains in platelet glycoprotein IIbIIIa. Eur J Biochem. 1996 Apr 1;237(1):205-11. [PubMed:8620874 ]
  16. Hiraiwa A, Matsukage A, Shiku H, Takahashi T, Naito K, Yamada K: Purification and partial amino acid sequence of human platelet membrane glycoproteins IIb and IIIa. Blood. 1987 Feb;69(2):560-4. [PubMed:3801670 ]
  17. Calvete JJ, Alvarez MV, Rivas G, Hew CL, Henschen A, Gonzalez-Rodriguez J: Interchain and intrachain disulphide bonds in human platelet glycoprotein IIb. Localization of the epitopes for several monoclonal antibodies. Biochem J. 1989 Jul 15;261(2):551-60. [PubMed:2476117 ]
  18. Calvete JJ, Henschen A, Gonzalez-Rodriguez J: Complete localization of the intrachain disulphide bonds and the N-glycosylation points in the alpha-subunit of human platelet glycoprotein IIb. Biochem J. 1989 Jul 15;261(2):561-8. [PubMed:2775232 ]
  19. Calvete JJ, Muniz-Diaz E: Localization of an O-glycosylation site in the alpha-subunit of the human platelet integrin GPIIb/IIIa involved in Baka (HPA-3a) alloantigen expression. FEBS Lett. 1993 Aug 9;328(1-2):30-4. [PubMed:7688323 ]
  20. Trikha M, Cai Y, Grignon D, Honn KV: Identification of a novel truncated alphaIIb integrin. Cancer Res. 1998 Nov 1;58(21):4771-5. [PubMed:9809974 ]
  21. Calvete JJ, Schafer W, Henschen A, Gonzalez-Rodriguez J: Characterization of the beta-chain N-terminus heterogeneity and the alpha-chain C-terminus of human platelet GPIIb. Posttranslational cleavage sites. FEBS Lett. 1990 Oct 15;272(1-2):37-40. [PubMed:2226834 ]
  22. Leisner TM, Wencel-Drake JD, Wang W, Lam SC: Bidirectional transmembrane modulation of integrin alphaIIbbeta3 conformations. J Biol Chem. 1999 Apr 30;274(18):12945-9. [PubMed:10212286 ]
  23. Brophy TM, Raab M, Daxecker H, Culligan KG, Lehmann I, Chubb AJ, Treumann A, Moran N: RN181, a novel ubiquitin E3 ligase that interacts with the KVGFFKR motif of platelet integrin alpha(IIb)beta3. Biochem Biophys Res Commun. 2008 May 16;369(4):1088-93. doi: 10.1016/j.bbrc.2008.02.142. Epub 2008 Mar 10. [PubMed:18331836 ]
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  25. Lyman S, Aster RH, Visentin GP, Newman PJ: Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system. Blood. 1990 Jun 15;75(12):2343-8. [PubMed:2350579 ]
  26. Poncz M, Rifat S, Coller BS, Newman PJ, Shattil SJ, Parrella T, Fortina P, Bennett JS: Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. J Clin Invest. 1994 Jan;93(1):172-9. [PubMed:8282784 ]
  27. Wilcox DA, Wautier JL, Pidard D, Newman PJ: A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. J Biol Chem. 1994 Feb 11;269(6):4450-7. [PubMed:7508443 ]
  28. Wilcox DA, Paddock CM, Lyman S, Gill JC, Newman PJ: Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. J Clin Invest. 1995 Apr;95(4):1553-60. [PubMed:7706461 ]
  29. Basani RB, Vilaire G, Shattil SJ, Kolodziej MA, Bennett JS, Poncz M: Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. Blood. 1996 Jul 1;88(1):167-73. [PubMed:8704171 ]
  30. French DL, Coller BS: Hematologically important mutations: Glanzmann thrombasthenia. Blood Cells Mol Dis. 1997;23(1):39-51. [PubMed:9215749 ]
  31. Grimaldi CM, Chen F, Wu C, Weiss HJ, Coller BS, French DL: Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. Blood. 1998 Mar 1;91(5):1562-71. [PubMed:9473221 ]
  32. Tadokoro S, Tomiyama Y, Honda S, Arai M, Yamamoto N, Shiraga M, Kosugi S, Kanakura Y, Kurata Y, Matsuzawa Y: A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. Blood. 1998 Oct 15;92(8):2750-8. [PubMed:9763559 ]
  33. Ambo H, Kamata T, Handa M, Kawai Y, Oda A, Murata M, Takada Y, Ikeda Y: Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients. Br J Haematol. 1998 Aug;102(3):829-40. [PubMed:9722314 ]
  34. Ruan J, Peyruchaud O, Alberio L, Valles G, Clemetson K, Bourre F, Nurden AT: Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. Br J Haematol. 1998 Sep;102(4):918-25. [PubMed:9734640 ]
  35. Gonzalez-Manchon C, Fernandez-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, Garcia-Munoz S, Ayuso MS, Parrilla R: Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. Blood. 1999 Feb 1;93(3):866-75. [PubMed:9920835 ]
  36. Basani RB, French DL, Vilaire G, Brown DL, Chen F, Coller BS, Derrick JM, Gartner TK, Bennett JS, Poncz M: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. Blood. 2000 Jan 1;95(1):180-8. [PubMed:10607701 ]
  37. Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Negrier C: Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. Platelets. 2001 Dec;12(8):486-95. [PubMed:11798398 ]
  38. Tanaka S, Hayashi T, Hori Y, Terada C, Han KS, Ahn HS, Bourre F, Tani Y: A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. Br J Haematol. 2002 Sep;118(3):833-5. [PubMed:12181054 ]
  39. D'Andrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G, Margaglione M: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost. 2002 Jun;87(6):1034-42. [PubMed:12083483 ]
  40. Mitchell WB, Li JH, Singh F, Michelson AD, Bussel J, Coller BS, French DL: Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. Blood. 2003 Mar 15;101(6):2268-76. Epub 2002 Nov 7. [PubMed:12424194 ]
  41. Kiyoi T, Tomiyama Y, Honda S, Tadokoro S, Arai M, Kashiwagi H, Kosugi S, Kato H, Kurata Y, Matsuzawa Y: A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects. Blood. 2003 May 1;101(9):3485-91. Epub 2002 Dec 27. [PubMed:12506038 ]
  42. Nurden AT, Breillat C, Jacquelin B, Combrie R, Freedman J, Blanchette VS, Schmugge M, Rand ML: Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. J Thromb Haemost. 2004 May;2(5):813-9. [PubMed:15099289 ]
  43. Rosenberg N, Landau M, Luboshitz J, Rechavi G, Seligsohn U: A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. J Thromb Haemost. 2004 Jul;2(7):1167-75. [PubMed:15219201 ]
  44. Jayo A, Pabon D, Lastres P, Jimenez-Yuste V, Gonzalez-Manchon C: Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. Haematologica. 2006 Oct;91(10):1352-9. [PubMed:17018384 ]