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Gene Review

Optn  -  optineurin

Mus musculus

Synonyms: 4930441O07Rik, FIP2, HYPL, NRP, Optineurin, ...
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Disease relevance of Optn

  • Mutations in the optineurin (optic neuropathy inducing) protein were found associated with an adult form of glaucoma [1].
  • In this study, to elucidate the role of Angptl3 in atherogenesis, we investigated the effects of hypl mutation against hyperlipidemia and atherosclerosis in apolipoprotein E knockout (apoEKO) mice [2].

High impact information on Optn


Biological context of Optn

  • We mapped Optn to chromosome 2, within a region that is syntenic to human 10p14 [5].
  • Optn has 13 coding exons and its exon-intron boundaries are evolutionarily conserved with human [5].
  • The goal of the present study was to study the molecular properties of optineurin and its capabilities to prevent apoptosis in vivo in the eyes of transgenic mice [6].

Anatomical context of Optn


Other interactions of Optn


Analytical, diagnostic and therapeutic context of Optn


  1. Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. De Marco, N., Buono, M., Troise, F., Diez-Roux, G. J. Biol. Chem. (2006) [Pubmed]
  2. A decreased expression of angiopoietin-like 3 is protective against atherosclerosis in apoE-deficient mice. Ando, Y., Shimizugawa, T., Takeshita, S., Ono, M., Shimamura, M., Koishi, R., Furukawa, H. J. Lipid Res. (2003) [Pubmed]
  3. Progression of autoimmune diabetes driven by avidity maturation of a T-cell population. Amrani, A., Verdaguer, J., Serra, P., Tafuro, S., Tan, R., Santamaria, P. Nature (2000) [Pubmed]
  4. NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation. Kim, T.A., Lim, J., Ota, S., Raja, S., Rogers, R., Rivnay, B., Avraham, H., Avraham, S. J. Cell Biol. (1998) [Pubmed]
  5. Molecular cloning, genomic structure, and protein characterization of mouse optineurin. Rezaie, T., Sarfarazi, M. Genomics (2005) [Pubmed]
  6. Transgenic studies on the role of optineurin in the mouse eye. Kroeber, M., Ohlmann, A., Russell, P., Tamm, E.R. Exp. Eye Res. (2006) [Pubmed]
  7. Expansion of the antigenic repertoire of a single T cell receptor upon T cell activation. Amrani, A., Serra, P., Yamanouchi, J., Trudeau, J.D., Tan, R., Elliott, J.F., Santamaria, P. J. Immunol. (2001) [Pubmed]
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