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

GenAge model organism genes

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