GeneID: 212


Common Name: VEGFA Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_008732.1 (VEGFA)
HUGO Symbol: VEGFA Full Name: vascular endothelial growth factor A
Exons: 8 Introns: 7

This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. It enhances vascular permeability and endothelial cell adhesiveness by increasing expression of endothelial adhesion molecules, such as ICAM-1 and VCAM-1. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. Variants in this gene associated with increased risk for vaso-occlusive crisis in patients with sickle cell disease (SCA). There is also evidence of increased VEGF gene expression in patients with SCA, as well as an inverse dose-response relationship with hydroxyurea therapy, suggesting a role for this gene in both the severity and treatment of SCA.

Synonyms: VPF , VEGF , MVCD1


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Publications / Origin

  1. Al-Habboubi HH, Mahdi N, Abu-Hijleh TM, Abu-Hijleh FM, Sater MS, Almawi WY, The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease., Eur. J. Haematol. , 89(5), 403-9, 2012 PubMed
  2. Pedrosa AM, Lemes RPG, Gene expression of HIF-1α and VEGF in response to hypoxia in sickle cell anaemia: Influence of hydroxycarbamide., Br. J. Haematol., 2020 PubMed
Created on 2017-02-14 14:23:37, Last reviewed on 2020-06-26 12:59:45 (Show full history)

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