GP1BB

A 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.

Molecular pathology
GP1BA mutations are associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder.

References in periodicals archive

GPIb[alpha], GPIb[beta] and GPIX, encoded by the GPIBA, GP1BB and GP9 genes, are all required for efficient expression of the complex on the platelet surface, while absence of GPV does not appear to affect receptor expression or VWF binding.

Diagnostic considerations with inherited platelet disorder testing: This month's CE is comprised of two articles

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