Gene Symbol | Crbn |
Entrez Gene ID | 58799 |
Full Name | cereblon |
Synonyms | 2610203G15Rik,2900045O07Rik,AF229032,AW108261,piL |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | This gene encodes a protein with a Lon protease domain, a 'regulators of G protein-signaling' (RGS)-like domain and a leucine zipper. It has been proposed to regulate the assembly and surface expression of large-conductance calcium-activated potassium channels in brain and to bind thalidomide. In humans mutation in this gene causes autosomal recessive nonsyndromic cognitive disability. In mouse deficiency of this gene serves as a model to study the molecular mechanisms governing learning and memory as they relate to intellectual disability. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]. |