pax6 transcription factor


Summary: A paired box transcription factor that has important functions in the development of the eye, nose, central nervous system and pancreas. Mutations in the PAX6 gene are associated with ocular disorders such as ANIRIDIA.

Top Publications

  1. Giacomantonio C, Goodhill G. A Boolean model of the gene regulatory network underlying Mammalian cortical area development. PLoS Comput Biol. 2010;6: pubmed publisher
    ..Overall, our model illuminates the design principles of the gene network regulating cortical area development, and makes novel predictions that can be tested experimentally. ..
  2. Yamashita W, Takahashi M, Kikkawa T, Gotoh H, Osumi N, Ono K, et al. Conserved and divergent functions of Pax6 underlie species-specific neurogenic patterns in the developing amniote brain. Development. 2018;145: pubmed publisher
  3. Zhu S, Ambasudhan R, Sun W, Kim H, Talantova M, Wang X, et al. Small molecules enable OCT4-mediated direct reprogramming into expandable human neural stem cells. Cell Res. 2014;24:126-9 pubmed publisher
  4. Yang Q, Shao Y, Shi J, Qu Y, Wu K, Dang S, et al. Concomitant PIK3CA amplification and RASSF1A or PAX6 hypermethylation predict worse survival in gastric cancer. Clin Biochem. 2014;47:111-6 pubmed
    ..Collectively, such (epi)genotypes may be strong and independent poor prognostic factors for gastric cancer patients. ..
  5. Hanish A, Butman J, Thomas F, Yao J, Han J. Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency. J Sleep Res. 2016;25:16-22 pubmed
    ..Further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/−. ..
  6. Mitchell R, Nguyen Tu M, Chabosseau P, Callingham R, Pullen T, Cheung R, et al. The transcription factor Pax6 is required for pancreatic ? cell identity, glucose-regulated ATP synthesis, and Ca2+ dynamics in adult mice. J Biol Chem. 2017;292:8892-8906 pubmed publisher
    ..Furthermore, deficiencies in ? cell glucose sensing are likely to contribute to defective insulin secretion in human carriers of PAX6 mutations. ..
  7. Eda H, Fukui H, Uchiyama R, Kitayama Y, Hara K, Yang M, et al. Effect of Helicobacter pylori infection on the link between GLP-1 expression and motility of the gastrointestinal tract. PLoS ONE. 2017;12:e0177232 pubmed publisher
    ..pylori eradication, GITT and PAX6/GLP-1 expression did not differ significantly from those in untreated H. pylori-infected mice. H. pylori infection may impair GI motility by enhancing the colonic GLP-1/PAX6 expression. ..
  8. Chen T, Cavari B, Schartl M, Hong Y. Identification and Expression of Conserved and Novel RNA Variants of Medaka pax6b Gene. J Exp Zool B Mol Dev Evol. 2017;328:412-422 pubmed publisher
  9. Lim H, Kim D, Kim H. PAX6 aniridia syndrome: clinics, genetics, and therapeutics. Curr Opin Ophthalmol. 2017;28:436-447 pubmed publisher
    ..Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment. ..

More Information


  1. Laggner M, Pollreisz A, Schmidinger G, Schmidt Erfurth U, Chen Y. Autophagy mediates cell cycle response by regulating nucleocytoplasmic transport of PAX6 in limbal stem cells under ultraviolet-A stress. PLoS ONE. 2017;12:e0180868 pubmed publisher
    ..The coupling of autophagic machinery and PAX6 in cell cycle regulation represents an attractive therapeutic target for hyperproliferative ocular surface disorders associated with solar radiation. ..
  2. Miao Q, Ping X, Tang X, Zhang L, Zhang X, Cheng Y, et al. Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia. Gene. 2017;630:44-48 pubmed publisher
    ..Our study further expands the spectrum of genetic pathology underlying PAX6. ..
  3. Dulcis D, Lippi G, Stark C, Do L, Berg D, Spitzer N. Neurotransmitter Switching Regulated by miRNAs Controls Changes in Social Preference. Neuron. 2017;95:1319-1333.e5 pubmed publisher
    ..The results illuminate the role of NT switching governing experience-dependent social preference. VIDEO ABSTRACT. ..
  4. Matsuda H, Mullapudi S, Zhang Y, Hesselson D, Stainier D. Thyroid Hormone Coordinates Pancreatic Islet Maturation During the Zebrafish Larval-to-Juvenile Transition to Maintain Glucose Homeostasis. Diabetes. 2017;66:2623-2635 pubmed publisher
    ..Thus, our study sheds new light on the regulation of glucose metabolism during major developmental transitions. ..
  5. Lacomme M, Medevielle F, Bourbon H, Thierion E, Kleinjan D, Roussat M, et al. A long range distal enhancer controls temporal fine-tuning of PAX6 expression in neuronal precursors. Dev Biol. 2018;436:94-107 pubmed publisher
    ..We propose a model in which retinoic acid receptors (RARs) and NEUROG2 repressive target(s) compete on the same DNA motif to fine tune temporal PAX6 expression during the course of spinal neurogenesis. ..