Aliases

• Elongin Binding Protein
• HRCA1
• PVHL
• Protein G7
• RCA1
• VHL
• VHL1
• Von Hippel-Lindau Disease Tumor Suppressor
• Von Hippel-Lindau Syndrome
• Von Hippel-Lindau Tumor Suppressor
• Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase

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]

Attributes

QA State

Under Review

Type

Proteomic

HGNC Name

VHL