GP1BBA gene on chromosome 22q11.21-q11.23|22q11.21 that encodes the beta subunit of the Ib-V-IX system of platelet surface membrane glycoproteins, which comprise the von Willebrand factor receptor and mediate adhesion of platelets to injured vascular surfaces with circulation, a critical event in haemostasis. The beta unit contributes to surface expression of the receptor and participates in transmembrane signalling through phosphorylation of its intracellular domain.
GP1BA mutations are associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder.
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