Gene Symbol | CRBN |
Entrez Gene ID | 51185 |
Full Name | cereblon |
Synonyms | MRT2,MRT2A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 2, 607417 (3) |