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Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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Additional Contact Details
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VHL / Von Hippel Lindau
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
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.
| Gene Name: | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
| Synonyms: | VHL, Elongin binding protein, HRCA1, RCA1, VHL1, Von Hippel-Lindau syndrome, Protein G7, PVHL |
| Target Sequences: | NM_000551 NP_000542.1 P40337 |
Publications (2)
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