Gene Symbol | ITGA2B |
Entrez Gene ID | 3674 |
Full Name | integrin subunit alpha 2b |
Synonyms | BDPLT16,BDPLT2,CD41,CD41B,GP2B,GPIIb,GT,GTA,HPA3,PPP1R93 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) |