Glanzmann thrombasthenia
Glanzmann thrombasthenia is a platelet function disorder that is caused by an abnormality in the genes for glycoproteins IIb/IIIa. These genes code for a group of linked proteins normally found on the surface of platelets, the glycoprotein IIb/IIIa receptor (also called the fibrinogen receptor). Because this receptor is absent or is not working properly, platelets do not stick to each other at the site of injury and it is difficult for the normal blood clot to form.
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| ITGB3 | 17 | PDB Entries | |
| ITGA2B | 17 | PDB Entries |