CRBN Antibody – Rabbit Polyclonal

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 mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

CRBN: Component 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. Defects in CRBN are the cause of mental retardation autosomal recessive type 2A (MRT2A). 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. Belongs to the CRBN family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 3p26.2

Cellular Component: membrane; cytoplasm; nucleolus; nucleus

Molecular Function: protein binding; ATP-dependent peptidase activity; metal ion binding

Biological Process: proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of protein homooligomerization

Disease: Mental Retardation, Autosomal Recessive 2