VHL

Aliases:
This biomarker is also known as:
  • VHL1
  • Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase
  • HRCA1
  • Protein G7
  • Elongin Binding Protein
  • Von Hippel-Lindau Disease Tumor Suppressor
  • RCA1
  • VHL
  • PVHL
  • Von Hippel-Lindau Syndrome
  • Von Hippel-Lindau Tumor Suppressor

Description…

From NCBI: 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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Proteomic
HGNC Name: VHL

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Version 5.1.0