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Gene Review: 

Mycbp2  -  MYC binding protein 2

Mus musculus

Synonyms: AU023734, AW107953, AW546647, C130061D10Rik, E3 ubiquitin-protein ligase MYCBP2, ...
 
 
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Disease relevance of Phr1

  • Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice [1].
 

High impact information on Phr1

  • In mice lacking Phr1, the phrenic nerve failed to completely innervate the diaphragm [1].
  • Alternative splicing in protein associated with Myc (Pam) influences its binding to c-Myc [2].
  • The Pam gene contains 83 exons and encodes a 4,641-amino-acid polypeptide with a predicted molecular weight of approximately 510 kDa [2].
  • The presence of Pam in many cellular compartments, its spliced variants, as well as its multiple binding partners, including tuberin, make it a complex, yet intriguing protein in the nervous system [2].
  • The candidate genes identified include Phr1 (formerly Pam) and Spry2, which are mouse homologs of genes required for development in Drosophila melanogaster [3].

References

  1. Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice. Burgess, R.W., Peterson, K.A., Johnson, M.J., Roix, J.J., Welsh, I.C., O'Brien, T.P. Mol. Cell. Biol. (2004) [Pubmed]
  2. Alternative splicing in protein associated with Myc (Pam) influences its binding to c-Myc. Santos, T.M., Han, S., Bowser, M., Sazani, K., Beauchamp, R.L., Murthy, V., Bhide, P.G., Ramesh, V. J. Neurosci. Res. (2006) [Pubmed]
  3. Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14. Peterson, K.A., King, B.L., Hagge-Greenberg, A., Roix, J.J., Bult, C.J., O'Brien, T.P. Genomics (2002) [Pubmed]
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