GeneID: 485

Description:
The ITGA4 gene product belongs to the integrin family, which includes cell surface receptors for extracellular matrix components and receptors involved in various aspects of leukocyte adhesion. The integrins generally consist of alpha-beta heterodimeric transmembrane glycoproteins of distinct ligand-binding specificity and tissue distribution. Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They are also receptors for VCAM1. Both VCAM1 and VLA-4 have been implicated in vascular adhesion/endothelial dysfunction. Sequence variations in the ITGA4 gene positively associated with stroke risk in pediatric cohorts of sickle cell anaemia. Specific variants also associated with traditional biomarkers of disease severity, such as HbS and LDH levels. ITGA4 is a candidate genetic modulator of the pathophysiology of cerebral vasculopathy with implications for sickle cell stroke severity and prognosis.

Synonyms: IA4 , CD49D

Comments:
N/A

Number of entries/variants: 2

1. Silva M, Vargas S, Coelho A, Ferreira E, Mendonça J, Vieira L, Maia R, Dias A, Ferreira T, Morais A, Soares IM, Lavinha J, Silva R, Kjöllerström P, Faustino P, Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia., Blood Cells Mol Dis, 83(0), 102436, 2020 PubMed