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GP6 gene

glycoprotein VI platelet
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Normal Function

The GP6 gene provides instructions for making a protein called glycoprotein VI (GPVI). GPVI is a receptor protein that is embedded in the outer membrane of blood cells called platelets, which are an essential component of blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss.

Receptor proteins, like GPVI, have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell function. The main ligand for GPVI is a protein called collagen, which is found on blood vessel walls. In response to an injury that causes bleeding, the GPVI protein attaches (binds) to collagen, which begins clot formation and signals additional platelets to come together to increase the size of the clot. The GPVI protein can also bind to a protein called fibrin, which is the main protein that forms blood clots.

Health Conditions Related to Genetic Changes

Glycoprotein VI deficiency

At least five mutations in the GP6 gene have been found to cause glycoprotein VI deficiency, a bleeding disorder associated with a decreased ability to form blood clots. The mutations lead to the production of no GPVI protein; an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently at the site of an injury to form a clot, leading to an increased risk of nosebleeds, abnormally heavy or prolonged bleeding following minor injury or surgery, or other bleeding problems associated with glycoprotein VI deficiency.

More About This Health Condition

Other Names for This Gene

  • glycoprotein 6
  • GPVI
  • GPVI collagen receptor
  • platelet collagen receptor
  • platelet glycoprotein VI
  • platelet membrane glycoprotein VI

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Arthur JF, Dunkley S, Andrews RK. Platelet glycoprotein VI-related clinical defects. Br J Haematol. 2007 Nov;139(3):363-72. Review. Citation on PubMed
  • Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood. 2009 Aug 27;114(9):1900-3. doi: 10.1182/blood-2009-03-213504. Epub 2009 Jun 23. Citation on PubMed
  • Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost. 2009 Aug;7(8):1356-63. doi: 10.1111/j.1538-7836.2009.03520.x. Epub 2009 Jun 22. Citation on PubMed
  • Matus V, Valenzuela G, Sáez CG, Hidalgo P, Lagos M, Aranda E, Panes O, Pereira J, Pillois X, Nurden AT, Mezzano D. An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. J Thromb Haemost. 2013 Sep;11(9):1751-9. doi: 10.1111/jth.12334. Citation on PubMed
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