Vhl - von Hippel-Lindau tumor suppressor

Predicted to enable enzyme binding activity and ubiquitin ligase-substrate adaptor activity. Predicted to contribute to ubiquitin-protein transferase activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; regulation of catecholamine metabolic process; and response to ethanol. Located in cytosol; mitochondrion; and nucleus. Part of VCB complex. Used to study Parkinsonism. Biomarker of nephroblastoma and urinary bladder cancer. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to several human genes including VHL (von Hippel-Lindau tumor suppressor). [provided by Alliance of Genome Resources, Apr 2022]