GeneID: 260
Names
| Common Name: | ITGB3 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 17 (NC_000017.11) | Locus: | NG_008332.2 (ITGB3) |
| HUGO Symbol: | ITGB3 | Full Name: | integrin subunit beta 3 |
| Exons: | 15 | Introns: | 14 |
Description:
The ITGB3 gene encodes the beta-3 (β3 or GPIIIa) subunit of the integrin family. Integrins are heterodimeric, membrane-spanning receptors composed of one α- and one β-subunit, with key roles in cell adhesion and signalling. The α subunit mediates ligand binding while the β subunit provides a link to the cytoskeleton. The family consists of at least 15 α- and 8 β-subunits, which can heterodimerize in over 20 combinations. A single β chain can interact with multiple α chains, forming integrins that bind different ligands. The β3 (cytoadhesion) integrins have various adhesive functions. The GPIIb/IIIa complex, also known as αIIbβ3 (CD41/CD61), is expressed exclusively on platelets. It is also the most abundant platelet adhesion receptor with a wide variety of extracellular matrix ligands, including vitronectin, fibronectin, thrombospondin, fibrinogen, and von Willebrand factor. It has has been identified as the main mediator of platelet aggregation (or thrombus) at the sites of vessel injury. Defects in the β3 integrin subunit result in an autosomal recessive bleeding disorder called Glanzmann thrombasthenia, which suggests an important role of the GPIIb/IIIa integrin in the formation of blood clots. Although evidence is conflicting, a study conducted in the Unites States investigating the effect of thrombophilic mutations on vascular complications (e.g., stroke and avascular necrosis) of sickle cell disease revealed a non-significant association with variants of the ITGB3 gene.
Synonyms: GT , CD61 , GP3A , BDPLT2 , GPIIIa , BDPLT16
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Jin Y, Dietz HC, Nurden A, Bray PF, Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa., Blood, 82(8), 2281-8, 1993
- Elangbam CS, Qualls CW, Dahlgren RR, Cell adhesion molecules--update., Vet. Pathol., 34(1), 61-73, 1997
- Zimmerman SA, Ware RE, Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease., Am. J. Hematol., 59(4), 267-72, 1998
- Tomiyama Y, Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency., Int. J. Hematol., 72(4), 448-54, 2000
- Saboor M, Ayub Q, Ilyas S, Moinuddin , Platelet receptors; an instrumental of platelet physiology., Pak J Med Sci, 29(3), 891-6, 2013