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

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Gene Review: 

RPTN  -  repetin

Homo sapiens

Synonyms: FLJ39117, Repetin
 
 
 
 
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High impact information on RPTN

  • Our results indicate that repetin is indeed a member of the fused gene family similar to the prototypical members profilaggrin and trichohyalin [1].
  • The human repetin gene is a member of the "fused" gene family and localized in the epidermal differentiation complex on chromosome 1q21 [1].
  • The repetin protein of 784 amino acids contains EF (a structure resembling the E helix-calcium-binding loop-F helix domain of parvalbumin) hands of the S100 type and internal tandem repeats typical for CE precursor proteins, a combination which is characteristic for "fused" proteins [1].
  • The "fused" gene family comprises profilaggrin, trichohyalin, repetin, hornerin, the profilaggrin-related protein and a protein encoded by c1orf10 [1].

References

  1. Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. Huber, M., Siegenthaler, G., Mirancea, N., Marenholz, I., Nizetic, D., Breitkreutz, D., Mischke, D., Hohl, D. J. Invest. Dermatol. (2005) [Pubmed]
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