Vhl - von Hippel-Lindau tumor suppressor

Predicted to enable enzyme binding activity and ubiquitin ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation of protein catabolic process at postsynapse, modulating synaptic transmission. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in several cellular components, including cilium; glutamatergic synapse; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is expressed in several structures, including eye; genitourinary system; gut; heart; and nervous system. Used to study familial erythrocytosis 2; sudden infant death syndrome; and von Hippel-Lindau disease. 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]