GP1BA
GP1BA encodes glycoprotein Ib platelet subunit alpha (652 aa). GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium Highest expression in Skin Sun Exposed Lower leg (4.2 TPM) and Skin Not Sun Exposed Suprapubic (4.0 TPM).
Bernard-Soulier syndrome is caused by mutations in the GP1BA gene on chromosome 17.
The GP1BA protein participates in GP1BA variant:GP1BB:GP9, GP1BA variant:GP1BB:GP9:GP5, and RUNX1:CBFB:SIN3A,(SIN3B):PRMT6:HDAC1:GP1BA gene:H3K4me2-Nucleosome pathways.
GP1BA is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 4.7.
GP1BB
GP1BB encodes glycoprotein Ib platelet subunit beta (206 aa). 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
Bernard-Soulier syndrome is caused by mutations in the GP1BB gene on chromosome 22.
GP1BB is classified as a druggable target (Druggable Genome category) with score 0.0.
GP9
GP9 encodes glycoprotein IX platelet (177 aa). The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. Highest expression in Whole Blood (21.5 TPM) and Spleen (12.6 TPM).
Bernard-Soulier syndrome is caused by mutations in the GP9 gene on chromosome 3.
The GP9 protein participates in TLR folding by chaperones GP96 and CNPY3 pathway.
GP9 is classified as a druggable target (Druggable Genome category) with score 0.0.
