Aliases for CRBN Gene
External Ids for CRBN Gene
Previous HGNC Symbols for CRBN Gene
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
GeneCards Summary for CRBN Gene
CRBN (Cereblon) is a Protein Coding gene. Diseases associated with CRBN include Mental Retardation, Autosomal Recessive 2 and Autosomal Recessive Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include ATP-dependent peptidase activity.
UniProtKB/Swiss-Prot for CRBN Gene
Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Binding of pomalidomide and other thalidomide-related drugs changes the substrate specificity of the human protein, leading to decreased degradation of MEIS2 and other target proteins and increased degradation of MYC, IRF4, IKZF1 and IKZF3.