Recombinant?Human?Protein?cereblon (CRBN), Truncated

Uniprot Id

Q96SW2

Target Species

Human

Target Name

CRBN

Target Full Name

Protein cereblon

Target Function

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 (Probable). Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. Maintains presynaptic glutamate release and consequently cognitive functions, such as memory and learning, by negatively regulating large-conductance calcium-activated potassium (BK) channels in excitatory neurons. Likely to function by regulating the assembly and neuronal surface expression of BK channels via its interaction with KCNT1. May also be involved in regulating anxiety-like behaviors via a BK channel-independent mechanism.

Target Involvement

Mental retardation, autosomal recessive 2A (MRT2A)

Target Subcellular Location

Cytoplasm. Nucleus. Membrane; Peripheral membrane protein.

Target Protein Families

CRBN family

Target Tissue Specificity

Widely expressed. Highly expressed in brain.

Target Research Area

Neuroscience

Target Synonyms

CRBN; AD-006; Protein cereblon

Target Background

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.