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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Glrb  -  glycine receptor, beta subunit

Mus musculus

Synonyms: AI853901, Glycine receptor 58 kDa subunit, Glycine receptor subunit beta, Glyrb, spa, ...
 
 
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Disease relevance of Glrb

  • These results provide evidence that Glrb is necessary for postsynaptic expression of glycine receptor complexes, and suggest Glrb as a candidate gene for inherited myoclonus in other species [1].
  • The X chromosome-linked PLP/DM-20 gene is the CNS myelin gene most frequently associated with mutations, resulting in dysmyelination in several species including man (Pelizaeus-Merzbacher disease, X-linked Spastic Paraplegia) [2].
 

High impact information on Glrb

  • Intron 5 of the spa Glyrb gene contains an L1 transposable element that apparently is causal for the aberrant splicing of beta subunit transcripts [3].
  • The beta subunit-encoding gene (Glyrb) was mapped near the spa locus on mouse chromosome 3 [3].
  • The spa mutation is an insertion of a LINE-1 element in the gene for the beta subunit of the glycine receptor, Glrb [4].
  • Neuroanatomy of Spastic, a behavior mutant of the mexican axoloti: Purkinje cell distribution in the adult cerebellum [5].

References

  1. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Kingsmore, S.F., Giros, B., Suh, D., Bieniarz, M., Caron, M.G., Seldin, M.F. Nat. Genet. (1994) [Pubmed]
  2. Transgenic and natural mouse models of proteolipid protein (PLP)-related dysmyelination and demyelination. Griffiths, I.R., Schneider, A., Anderson, J., Nave, K.A. Brain Pathol. (1995) [Pubmed]
  3. The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Mülhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guénet, J.L., Kuhse, J., Betz, H., Becker, C.M. Neuron (1994) [Pubmed]
  4. Functional recovery of glycine receptors in spastic murine model of startle disease. Molon, A., Di Giovanni, S., Hathout, Y., Natale, J., Hoffman, E.P. Neurobiol. Dis. (2006) [Pubmed]
  5. Neuroanatomy of Spastic, a behavior mutant of the mexican axoloti: Purkinje cell distribution in the adult cerebellum. Ide, C.F., Tompkins, R., Miszkowski, N. J. Comp. Neurol. (1977) [Pubmed]
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