基因名：
VHL
产品别名：
HRCA1； RCA1； VHL1； pVHL； VHL； von Hippel-Lindau tumor suppressor； von Hippel-Lindau tumor suppressor； von Hippel-Lindau disease tumor suppressor； elongin binding protein； protein G7； von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase； 脑视网膜血管瘤G7蛋白（逢希伯-林道氏病）； 视网膜血管瘤肿瘤抑制因子(vHL)；
背景信息：
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].
