GeneID: 180



Names

Common Name: GP6 Type: Gene
Chromosome: 19 (NC_000019.10) Locus: NG_031963.2 (GP6)
HUGO Symbol: GP6 Full Name: glycoprotein VI platelet
Exons: 8 Introns: 7

Description:
This gene encodes glycoprotein VI, a member of the immunoglobulin superfamily of type I transmembrane proteins. It is a 58-kDa collagen receptor located in the platelet membrane, usually in a non-covalent association with the FcRγ-chain that carries an immunoreceptor tyrosine-based activation motif (ITAM). Damage to the vessel wall exposes subendothelial collagens to platelets in the blood flow, resulting in platelet activation and aggregation, and subsequently thrombus formation. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). A polymoprhism in this gene presents a risk factor of venous thrombosis in patients with HbH disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Synonyms: GPIV , GPVI , BDPLT11

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Jandrot-Perrus M, Busfield S, Lagrue AH, Xiong X, Debili N, Chickering T, Le Couedic JP, Goodearl A, Dussault B, Fraser C, Vainchenker W, Villeval JL, Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily., Blood , 96(5), 1798-807, 2000 PubMed
  2. Kato K, Kanaji T, Russell S, Kunicki TJ, Furihata K, Kanaji S, Marchese P, Reininger A, Ruggeri ZM, Ware J, The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion., Blood , 102(5), 1701-7, 2003 PubMed
  3. Bender M, May F, Lorenz V, Thielmann I, Hagedorn I, Finney BA, Vögtle T, Remer K, Braun A, Bösl M, Watson SP, Nieswandt B, Combined in vivo depletion of glycoprotein VI and C-type lectin-like receptor 2 severely compromises hemostasis and abrogates arterial thrombosis in mice., Arterioscler. Thromb. Vasc. Biol. , 33(5), 926-34, 2013 PubMed
  4. Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016 PubMed
Created on 2016-10-06 09:34:08, Last reviewed on (Show full history)


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