LongevityMap Gene

Gene details

HGNC symbol
GP1BA 
Aliases
BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; GPIbalpha; CD42b-alpha 
Common name
glycoprotein Ib platelet alpha subunit 
Description
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]
Cytogenetic Location
17p13.2
UCSC Genome Browser
View 17p13.2 on the UCSC genome browser
OMIM
606672
Ensembl
ENSG00000185245
UniProt/Swiss-Prot
GP1BA_HUMAN
Entrez Gene
2811
UniGene
1472
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
The L/P codon 33 SNP was examined in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)
Conclusions
No association with longevity was found
Indentifier
GP1BA
Reference