Automated description from the Alliance of Genome Resources (Release 7.0.0)
Predicted to enable several functions, including DNA-binding transcription factor binding activity; transcription elongation factor activity; and ubiquitin ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in cilium; cytoplasm; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; gut; 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).