GeneID: 82
Names
| Common Name: | ITGAV | Type: | Gene |
|---|---|---|---|
| Chromosome: | 2 (NC_000002.12) | Locus: | N/A |
| HUGO Symbol: | ITGAV | Full Name: | integrin subunit alpha V |
| Exons: | 30 | Introns: | 29 |
Description:
The ITGAV gene encodes the alpha V (αV) subunit of the integrin family. Integrins function in cell adhesion and signalling. They are heterodimeric, membrane-spanning receptors composed of one α- and one β-subunit. The family consists of 18 α- and 8 β-subunits, which can heterodimerize in 24 combinations of distinct ligand-binding specificity and tissue distribution. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the αV subunit. There are five αV integrins, of which αVβ3 is a receptor for a wide variety of extracellular matrix ligands, including vitronectin, fibronectin, thrombospondin, osteopontin, fibrinogen, and von Willebrand factor. This integrin may regulate angiogenesis and cancer progression. Polymorphisms in this gene associated with priapism in sickle cell patients. Alternative splicing results in multiple transcript variants.
Synonyms: CD51 , MSK8 , VNRA , VTNR
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Eliceiri BP, Cheresh DA, The role of alphav integrins during angiogenesis: insights into potential mechanisms of action and clinical development., J. Clin. Invest. , 103(9), 1227-30, 1999
- Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007
- Calderwood DA, Campbell ID, Critchley DR, Talins and kindlins: partners in integrin-mediated adhesion., Nat. Rev. Mol. Cell Biol. , 14(8), 503-17, 2013