Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Platelet glycoprotein 1b alpha polypeptide

Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive or dominant form of Bernard-Soulier syndrome. Genetic variations of this gene have also been associated with nonarteritic anterior ischemic optic neuropathy.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Bernard-Soulier syndrome
GP1BA
GP1BB
GP9

References:

1.

Savoia A et. al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

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2.

Salomon O et al. (2004) Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.

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3.

Miller JL et al. (1991) Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.

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4.

Russell SD et al. (1993) Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.

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5.

Murata M et al. (1993) Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.

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Update: Sept. 26, 2018