ITGA2B

Full Name: Integrin Subunit Alpha 2b

BACKGROUND: 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.

Synonyms: BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb; GT; GTA; HPA3; PPP1R93