GP1BA


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GP1BA

A gene on chromosome 17pter-p12 that encodes the alpha subunit of the Ib-V-IX system of platelet surface membrane glycoproteins, which comprise the von Willebrand factor (vWF) receptor and mediate adhesion of platelets to injured vascular surfaces with circulation, a critical event in haemostasis. The alpha subunit provides the vWF binding site.

Molecular pathology
GP1BA polymorphisms and mutations are linked to Bernard-Soulier syndromes and platelet-type von Willebrand disease.
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References in periodicals archive ?
Differential identification of PT-VWD from type 2B VWD and GP1BA nomenclature issues.
[6] Human genes: VWF, von Willebrand factor; GP1BA, glycoprotein Ib (platelet), alpha polypeptide.
(3) Human genes: VWF, von Willebrand factor; GP1BA, glycoprotein lb (platelet), alpha polypeptide.
Therefore the diagnosis was pseudo (platelet type) vWD which is a rare disorder arising from a gain of function mutation in the gene for the platelet glycoprotein-1b receptor (GP1BA).