DISEASES

Disease-gene associations mined from literature

Literature associating CRBN and autosomal recessive non-syndromic intellectual disability

CRBN [ENSP00000231948]

Protein cereblon; 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.

Synonyms:  CRBN,  A0A024R2H8,  Q96SW2,  AD-006,  Q96SW2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM