The cul2 gene encodes a scaffold protein that is a core component of an E3 ubiquitin ligase complex. This complex targets specific substrates, such as hypoxia-inducible factor alpha (HIFα), for polyubi...[+]

The cul2 gene encodes a scaffold protein that is a core component of an E3 ubiquitin ligase complex. This complex targets specific substrates, such as hypoxia-inducible factor alpha (HIFα), for polyubiquitination and subsequent proteasomal degradation, which is a mechanism involved in regulating embryonic development. The protein is expressed in neural crest cells, cranial cartilage, the developing eye, brain, and spinal cord. It exhibits cytoplasmic and nuclear subcellular localization. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD