P2Y12 Antibody – Rabbit Polyclonal

The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

P2Y12: Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Involved in platelets aggregation. Defects in P2RY12 are the cause of bleeding disorder platelet-type 8 (BDPLT8). A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. Belongs to the G-protein coupled receptor 1 family.

Protein type: Membrane protein, integral; Mitochondrial; GPCR, family 1; Receptor, GPCR; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3q25.1

Cellular Component: basal plasma membrane; caveola; cell surface; external side of plasma membrane; integral to plasma membrane; intrinsic to membrane; mitochondrion; plasma membrane

Molecular Function: adenosine receptor activity, G-protein coupled; guanyl-nucleotide exchange factor activity; platelet ADP receptor activity

Biological Process: adenosine receptor signaling pathway; G-protein coupled receptor protein signaling pathway; G-protein signaling, adenylate cyclase inhibiting pathway; glial cell migration; hemostasis; negative regulation of cell differentiation; positive regulation of GTPase activity; positive regulation of ion transport; protein kinase B signaling cascade; regulation of calcium ion transport; substrate-bound cell migration, cell extension

Disease: Bleeding Disorder, Platelet-type, 8