Glycoprotein Ib Platelet Subunit Beta

Alternative Names

  • GPIBB
  • Platelet Glycoprotein Ib Beta Chain
  • Truncated Platelet Membrane Glycoprotein Ib Beta
  • GP-Ib Beta

Associated Diseases

Bernard-Soulier Syndrome
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OMIM Number

138720

NCBI Gene ID

2812

Uniprot ID

P13224

Length

1830 bases

No. of Exons

2

No. of isoforms

2

Protein Name

Platelet glycoprotein Ib beta chain

Molecular Mass

21718Da

Amino Acid Count

206

Genomic Location

chr22:19722945-19724774

Gene Map Locus
22q11.21

Description

The GP1BB gene encodes the beta chain subunit of platelet glycoprotein Ib. Glycoprotein Ib (GP-Ib) is a protein complex found on the surface of platelets that plays a vital role in blood clotting. GP-Ib consists of two polypeptides – an alpha chain and a beta chain, and it forms the main portion of the GPIb-V-IX system, which functions as a receptor for von Willebrand factor (VWF) involved in normal platelet adhesion.

Mutations in GP1BB is associated with Bernard-Soulier syndrome and autosomal dominant macrothrombocytopenia. Mutations in GP1BB prevent the formation of the GP-Ib complex or affect its ability to interact with von Willebrand factor. This results in impairment of clot formation, leading to excessive bleeding seen in patients with Bernard-Soulier syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000407.4:c.423C>ASyriaNC_000022.11:g.19724266C>ALikely PathogenicBernard-Soulier SyndromeNG_007974.1:g.5724C>A; NM_000407.4:c.423C>A; NP_000398.1:p.Cys141Ter1324499
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