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Gene Review

Rax  -  retina and anterior neural fold homeobox

Mus musculus

Synonyms: 7530406A22Rik, E130303K03Rik, Retina and anterior neural fold homeobox protein, Retinal homeobox protein Rx, Rx, ...
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Disease relevance of Rax

  • Cre-mediated conversion of Rx(flox) generates the RxDelta2 allele, which, when homozygous, results in an Rx-null phenotype that includes perinatal lethality, anophthalmia, and anterior neural and craniofacial defects [1].

High impact information on Rax

  • Consistent with the loss-of-function results, the injection of Xvax1 results in a down-regulation of Rx [2].
  • The predicted amino acid sequence of Rax comprises a protein with a paired-type homeobox, as well as the octapeptide that is found in many paired-type homeobox genes [3].
  • Specification of the retinal fate of mouse embryonic stem cells by ectopic expression of Rx/rax, a homeobox gene [4].
  • Based on findings that mutations in the Rx/Rax homeobox genes in mice and fish lead to defects in retinal development and result in animal models of anophthalmia, we screened 75 individuals with anophthalmia and/or microphthalmia for mutations in the human RAX gene [5].
  • EnRaxLDeltaC, but not the dominant negative Rax (EnRaxDeltaC), caused a significant reduction in expression of early markers of photoreceptor cells [6].

Biological context of Rax

  • In contrast, in homozygous Small eye embryos that lack Pax6 function, Rx shows normal activation in the anterior neural plate and normal upregulation in the optic vesicle/retinal progenitor cells [7].
  • Rx-null homozygotes lack optic pits, which are the earliest ocular structures [1].
  • The 5' upstream regulatory sequences of the medaka fish Rx gene are functionally conserved during evolution to a degree that they direct gene expression into the Rx-expressing field of cells in mice [8].
  • Since resiniferatoxin is a poor activator of PKC, it is probable that the Ca2(+)-independent Rx-kinase plays a role in activation of the macrophage respiratory burst following stimulation by zymosan [9].
  • Investigation of the tissue distribution of the calcium independent kinase, Rx kinase; which is distinct from known isozymes of protein kinase C [10].

Anatomical context of Rax


  1. Conditional alleles for activation and inactivation of the mouse Rx homeobox gene. Voronina, V.A., Kozlov, S., Mathers, P.H., Lewandoski, M. Genesis (2005) [Pubmed]
  2. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system. Hallonet, M., Hollemann, T., Pieler, T., Gruss, P. Genes Dev. (1999) [Pubmed]
  3. rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina. Furukawa, T., Kozak, C.A., Cepko, C.L. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  4. Specification of the retinal fate of mouse embryonic stem cells by ectopic expression of Rx/rax, a homeobox gene. Tabata, Y., Ouchi, Y., Kamiya, H., Manabe, T., Arai, K., Watanabe, S. Mol. Cell. Biol. (2004) [Pubmed]
  5. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Voronina, V.A., Kozhemyakina, E.A., O'Kernick, C.M., Kahn, N.D., Wenger, S.L., Linberg, J.V., Schneider, A.S., Mathers, P.H. Hum. Mol. Genet. (2004) [Pubmed]
  6. The chicken RaxL gene plays a role in the initiation of photoreceptor differentiation. Chen, C.M., Cepko, C.L. Development (2002) [Pubmed]
  7. Function of Rx, but not Pax6, is essential for the formation of retinal progenitor cells in mice. Zhang, L., Mathers, P.H., Jamrich, M. Genesis (2000) [Pubmed]
  8. Rx-Cre, a tool for inactivation of gene expression in the developing retina. Swindell, E.C., Bailey, T.J., Loosli, F., Liu, C., Amaya-Manzanares, F., Mahon, K.A., Wittbrodt, J., Jamrich, M. Genesis (2006) [Pubmed]
  9. TPA and resiniferatoxin-mediated activation of NADPH-oxidase. A possible role for Rx-kinase augmentation of PKC. Evans, A.T., Sharma, P., Ryves, W.J., Evans, F.J. FEBS Lett. (1990) [Pubmed]
  10. Investigation of the tissue distribution of the calcium independent kinase, Rx kinase; which is distinct from known isozymes of protein kinase C. Evans, A.T., Gordge, P.C., Sharma, P., Ryves, W.J., Evans, F.J. Biochem. Soc. Trans. (1991) [Pubmed]
  11. Survey for paired-like homeodomain gene expression in the hypothalamus: restricted expression patterns of Rx, Alx4 and goosecoid. Asbreuk, C.H., van Schaick, H.S., Cox, J.J., Smidt, M.P., Burbach, J.P. Neuroscience (2002) [Pubmed]
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