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Gene Review

Elp4  -  elongation protein 4 homolog (S. cerevisiae)

Mus musculus

Synonyms: A330107A17Rik, Elongator complex protein 4, PAX6 neighbor gene protein, Paxneb
 
 
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Disease relevance of Elp4

  • The possible role of PAXNEB in aniridia was assessed [1].
 

High impact information on Elp4

  • The 2-kb PAXNEB transcript, encoding a 424-amino acid protein, is expressed in all cell lines tested [1].
  • Using a transgenic mouse model, we show that the aniridia phenotype of the chromosomal rearrangement cases is not due to the heterozygous loss of PAXNEB function [1].

References

  1. Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. Kleinjan, D.A., Seawright, A., Elgar, G., van Heyningen, V. Mamm. Genome (2002) [Pubmed]
 
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