GP1BB

(redirected from CD42c)

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 ?
There is absence of aggregation response with ristocetin on platelet aggregation studies with normal aggregation with other aggregating agents.8 BSS diagnosis is confirmed by Flow cytometric analysis of platelets showing defective binding with CD42a (GPIX), CD42b (GP Ib[alpha]), CD42c (GP Ib[beta]), and CD42d (GPV) antibodies.9 The defective fragments of GP Ib-IX-V complex after separating with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) may be identified by immunobloating.10