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

Gene: LOC107985325

Alternate names for this Gene:

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rs1654425 in GP6;LOC107985325 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs387906919 in GP6;LOC107985325 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.

rs1613662 in GP6;LOC107985325 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1613662 in GP6;LOC107985325 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.