Aliases for GP1BA Gene
External Ids for GP1BA Gene
Previous HGNC Symbols for GP1BA Gene
Previous GeneCards Identifiers for GP1BA Gene
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
GeneCards Summary for GP1BA Gene
GP1BA (Glycoprotein Ib Platelet Alpha Subunit) is a Protein Coding gene. Diseases associated with GP1BA include von willebrand disease, platelet-type and bernard-soulier syndrome, type a2. Among its related pathways are Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include thrombin receptor activity.
UniProtKB/Swiss-Prot for GP1BA Gene
GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.