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VHL von Hippel-Lindau tumor suppressor

Gene ID: 7428, updated on 29-Mar-2023
Gene type: protein coding
Also known as: RCA1; VHL1; pVHL; HRCA1


This gene encodes a component of a ubiquitination complex. The encoded 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. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]

Copy number response

Copy number response

No evidence available (Last evaluated 2022-05-11)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-05-11)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 3; NC_000003.12 (10141778..10153667)
Total number of exons:


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