| Gene Symbol | VHL |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Primary Expression | most tissues: |
| Molecular Weight | 19.5 kDa |
| Pathways | Mtor, Pi3K, Dna Methylation, Akt, Angiogenesis |
| Ensembl ID | ENSG00000196511 |
| GeneCards | VHL |
| Human Protein Atlas | VHL |
| Normoxia | VHL binds to hydroxylated HIF-α (HIF1A/HIF2A), leading to polyubiquitination and degradation |
| Hypoxia | HIF-α escapes hydroxylation, escapes VHL-mediated degradation, and translocates to the nucleus |
| Target genes | VEGF, EPO, GLUT1, and other genes involved in oxygen homeostasis[@schofield2004] |
| Extracellular matrix maintenance | VHL regulates fibronectin matrix assembly |
| Microtubule stabilization | VHL interacts with microtubules |
| Ciliogenesis | VHL is required for primary cilia formation |
| DNA repair | VHL participates in DNA damage response[@gossage2010] |
| Associated Diseases | Als, cancer, Carcinoma, Cardiovascular |
| Interactions | ACETYL-COA, ACLY, AKT, APOE4, ATG14L, ATP |
| KG Connections | 273 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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