GP1BA glycoprotein Ib platelet subunit alpha
Gene ID: 2811, updated on 4-Jan-2025Gene type: protein coding
Also known as: BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; GPIbalpha; CD42b-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for GP1BA
- Go to Variation Viewer for GP1BA variants
Summary
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bernard Soulier syndrome | See labs |
| Bernard-Soulier syndrome, type A2, autosomal dominant | See labs |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | See labs |
| Pseudo von Willebrand disease | See labs |
Genomic context
- Location:
- 17p13.2
- Sequence:
- Chromosome: 17; NC_000017.11 (4932277..4935023)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GP1BA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Bernard-Soulier Syndrome database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GP1BA database
- ISTH-SSC VWF Online Database - GP1BA
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The IPD - HPA Database
- Variation ViewerRelated Variants
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