The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 51 kDa (predicted molecular weight: 51 kDa).
FunctionComponent of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates 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.
Tissue specificityWidely expressed. Highly expressed in brain.
PathwayProtein modification; protein ubiquitination.
Involvement in diseaseDefects in CRBN are the cause of mental retardation autosomal recessive type 2A (MRT2A) [MIM:607417]. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features. Non-syndromic mental retardation patients do not manifest other clinical signs.
Sequence similaritiesBelongs to the CRBN family. Contains 1 Lon domain.
Post-translational modificationsUbiquitinated, ubiquitination is mediated by its own DCX protein ligase complex.