Vegfa

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. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 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.[provided by RefSeq, Nov 2015]

该基因属于PDGF/VEGF生长因子家族。其编码一种肝素结合蛋白，该蛋白以二硫键连接的同源二聚体形式存在。该生长因子可诱导血管内皮细胞的增殖和迁移，对于生理性和病理性血管生成至关重要。在小鼠中该基因的破坏导致了胚胎血管形成的异常。该基因在许多已知的肿瘤中上调，其表达与肿瘤分期和进展相关。针对该基因，已发现存在不同剪接转录本变体，编码不同的异构体。此外，有证据表明，通过上游非AUG（CUG）密码子的选择性翻译起始，可以产生额外的异构体。近期研究显示，通过一种终止密码子读通的机制，利用选择性内框翻译终止密码子，产生了一个C端延长的异构体，该异构体具有抗血管生成作用。源自AUG起始密码子的某些异构体的表达受到一个上游的小开放阅读框的调控，该阅读框位于内部核糖体进入位点内部。[由RefSeq提供，2015年11月]