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Gene Review

CRBN  -  cereblon

Homo sapiens

Synonyms: AD-006, MRT2, MRT2A, Protein cereblon
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Psychiatry related information on CRBN


High impact information on CRBN

  • Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A) [2].
  • Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family [3].
  • We suggest that 3p- syndrome associated features are primarily caused by loss of CNTN4 and CRBN, with loss of CHL1 probably having an additional detrimental effect on the cognitive functioning of the present patient [1].
  • The mutation in the CRBN gene described interrupts an N-myristoylation site and eliminates a casein kinase II phosphorylation site at the C terminus [4].


  1. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Dijkhuizen, T., van Essen, T., van der Vlies, P., Verheij, J.B., Sikkema-Raddatz, B., van der Veen, A.Y., Gerssen-Schoorl, K.B., Buys, C.H., Kok, K. Am. J. Med. Genet. A (2006) [Pubmed]
  2. Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A). Higgins, J.J., Pucilowska, J., Lombardi, R.Q., Rooney, J.P. Clin. Genet. (2004) [Pubmed]
  3. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. Basel-Vanagaite, L., Attia, R., Yahav, M., Ferland, R.J., Anteki, L., Walsh, C.A., Olender, T., Straussberg, R., Magal, N., Taub, E., Drasinover, V., Alkelai, A., Bercovich, D., Rechavi, G., Simon, A.J., Shohat, M. J. Med. Genet. (2006) [Pubmed]
  4. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Higgins, J.J., Pucilowska, J., Lombardi, R.Q., Rooney, J.P. Neurology (2004) [Pubmed]
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