Gene: LOC107985325

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GP6

Alternate names for this Gene: BDPLT11|GPIV|GPVI

Gene Summary: This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: glycoprotein VI platelet

Type of Gene: protein-coding

rs61658003 in LOC107985325;GP6 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs199588110 in LOC107985325;GP6 gene and Glycoprotein VI deficiency PMID 19549989 2009 Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations.

PMID 19552682 2009 A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.

rs1671152 in LOC107985325;GP6 gene and Platelet aggregation PMID 20526338 2010 Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.

rs1671152 in LOC107985325;GP6 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.