Entrez gene ID | | 2811 |
Official gene symbol | | GP1BA |
Full name | | glycoprotein Ib (platelet), alpha polypeptide |
Aliases | | ,BSS,CD42B,CD42b-alpha,GP1B,MGC34595, |
Gene summary | | 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. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17pter-p12 |
Gene position | | 4835592 - 4838325 Map Viewer |
Gene orientation | | plus |
Gene size | | 2734 bp |
Gene sequence |
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OMIM ID | | 606672 |
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