GP1BB
Function
Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
Involvement in disease
Bernard-Soulier syndrome
BSS
A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in heart and brain.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
CD42c, Platelet glycoprotein Ib beta chain, GP-Ib beta, GPIb-beta, GPIbB, Antigen CD42b-beta, GP1BB