Empire Genomics' VHL probe is designed to detect the VHL gene at chromosomal region 3p25.3. The probe comes labeled in orange, but can be customized to meet your needs.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
Gene 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]
Gene Details
Gene Symbol: VHL
Gene Name: Von Hippel-Lindau Tumor Suppressor
Chromosome: CHR3: 10183318-10195354
Locus: 3p25.3