CD42b

Function

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.

Involvement in disease

Non-arteritic anterior ischemic optic neuropathy

NAION

An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

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.

Bernard-Soulier syndrome A2, autosomal dominant

BSSA2

A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery.

None

The disease is caused by variants affecting the gene represented in this entry.

Pseudo-von Willebrand disease

VWDP

A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein.

Cellular localization

• Membrane
• Single-pass type I membrane protein

Alternative names

• Platelet glycoprotein Ib alpha chain
• GP-Ib alpha
• GPIb-alpha
• GPIbA
• Glycoprotein Ibalpha
• Antigen CD42b-alpha
• GP1BA

Database links

• entrezGene:2811
• omim:606672
• swissprot:P07359

Target type

Proteins

Primary research area

Immuno-oncology

Molecular weight

71540Da