Gene Symbol | VHL |
Entrez Gene ID | 7428 |
Full Name | von Hippel-Lindau tumor suppressor |
Synonyms | HRCA1,RCA1,VHL1,pVHL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | von Hippel-Lindau syndrome, 193300 (3); Renal cell carcinoma, somatic, 144700 (3); Pheochromocytoma, 171300 (3); Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3) |