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Molecular Biology Reports

, Volume 35, Issue 2, pp 251–256 | Cite as

Primary function analysis of human mental retardation related gene CRBN

  • Wang Xin
  • Ni Xiaohua
  • Chen Peilin
  • Chen Xin
  • Sun Yaqiong
  • Wu QihanEmail author
Article

Abstract

The mutation of human cereblon gene (CRBN) is revealed to be related with mild mental retardation. Since the molecular characteristics of CRBN have not been well presented, we investigated the general properties of CRBN. We analyzed its gene structure and protein homologues. The CRBN protein might belong to a family of adenosine triphosphate (ATP)-dependent Lon protease. We also found that CRBN was widely expressed in different tissues, and the expression level in testis is significantly higher than other tissues. This may suggested it could play some important roles in several other tissues besides brain. Transient transfection experiment in AD 293 cell lines suggested that both CRBN and CRBN mutant (nucleotide position 1,274(C > T)) are located in the whole cells. This may suggest new functions of CRBN in cell nucleolus besides its mitochondria protease activity in cytoplasm.

Keywords

Cereblon Expression pattern Mental retardation Subcellular localization 

Abbreviations used

ARNSMR

Autosomal recessive non-syndromic mental retardation

BKCa

Large-conductance Ca2+-activated K+

CRBN

Cereblon

MR

Mental retardation

rCRBN

Rat cereblon

Notes

Acknowledgements

This work was supported by the National Science Foundation of Shanghai (No.04ZR14040).

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Copyright information

© Springer Science+Business Media, Inc. 2007

Authors and Affiliations

  • Wang Xin
    • 1
  • Ni Xiaohua
    • 1
  • Chen Peilin
    • 1
  • Chen Xin
    • 1
  • Sun Yaqiong
    • 2
  • Wu Qihan
    • 1
    Email author
  1. 1.Laboratory of Gene Function, School of Life SciencesEast China Normal UniversityShanghaiP.R. China
  2. 2.State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life SciencesFudan UniversityShanghaiP.R. China

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