PAX6 Transcription Factor

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.

Also Known As:

Aniridia Type II Protein; Oculorhombin; PAX6 Protein; Paired Box Gene 6 Protein; Paired Box Protein Pax-6; Paired Box Transcription Factor 6; Pax-6 Protein; Pax6.1 Protein; Pax6.2 Protein; Transcription Factor PAX6; Factor PAX6, Transcription; Factor, PAX6 Transcription; PAX6, Transcription Factor; Paired Box Protein Pax 6; Pax 6 Protein; Protein, PAX6; Protein, Pax-6; Protein, Pax6.1; Protein, Pax6.2; Transcription Factor, PAX6

Networked: 37 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Transcription Factors: 38804
    - Paired Box Transcription Factors: 23
      - PAX6 Transcription Factor: 37
        human PAX6 protein
        mouse Pax6 protein
        rat Pax6 protein
        Xenopus Pax6 protein
        zebrafish Pax6b protein
  - DNA-Binding Proteins: 2009
    - Paired Box Transcription Factors: 23
      - PAX6 Transcription Factor: 37
        human PAX6 protein
        mouse Pax6 protein
        rat Pax6 protein
        Xenopus Pax6 protein
        zebrafish Pax6b protein

Experts

1.	Sjøttem, Eva: 2 articles (01/2018 - 01/2011)
2.	Lang, Deborah: 2 articles (06/2017 - 10/2009)
3.	Salgia, Ravi: 2 articles (06/2017 - 10/2009)
4.	Ebinger, Martin: 1 article (11/2022)
5.	Honegger, Jürgen: 1 article (11/2022)
6.	Renovanz, Mirjam: 1 article (11/2022)
7.	Schittenhelm, Jens: 1 article (11/2022)
8.	Schuhmann, Martin: 1 article (11/2022)
9.	Tabasaran, Julian: 1 article (11/2022)
10.	Chen, Junzhao: 1 article (12/2020)

Related Diseases

1.	Neoplasms (Cancer) 11/01/2022 - "The paired box 6 (PAX6) transcription factor is a putative tumour suppressor and drives cancer cells towards a stem cell-like state. " 01/01/2018 - "The transcription factor PAX6 is expressed in various cancers. " 06/01/2017 - "The present study demonstrates that paired box transcription factor 6 (PAX6) and C-X-C chemokine receptor 4 (CXCR4) are frequently co-expressed in primary pancreatic adenocarcinoma tumors and established cell lines. " 10/02/2009 - "Several proteins are overexpressed in this cancer type, including the MET tyrosine kinase receptor and the transcription factor PAX6. "
2.	Retinoblastoma (Glioblastoma, Retinal) 08/01/2014 - "The aim of this study was to investigate the role of the transcription factor, PAX6, in the development of retinoblastoma. "
3.	Adenocarcinoma 06/01/2017 - "The present study demonstrates that paired box transcription factor 6 (PAX6) and C-X-C chemokine receptor 4 (CXCR4) are frequently co-expressed in primary pancreatic adenocarcinoma tumors and established cell lines. "
4.	Aniridia 08/26/2023 - "Congenital aniridia is caused by heterozygous mutations on the PAX6 gene leading to reduced amount of PAX6 protein (haploinsufficiency), abnormal eye development and aniridia-associated keratopathy (AAK). " 02/28/2023 - "This mutation is predicted to cause the premature truncation of the PAX6 protein, leading to the functional haploinsufficiency of PAX6, which may be the major molecular mechanism underlying the aniridia phenotype. " 07/01/2020 - "Genotype-phenotype evidence suggests that while aniridia is associated with most variant types, a much broader clinical spectrum is seen in patients harbouring a missense variant, or a frameshift or run-on variant that results in an elongated or extended PAX6 protein." 01/01/2018 - "Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein." 01/01/2018 - "Western blot showed reduced PAX6, protein levels in aniridia-LECs compared to control-LECs. "
5.	Eye Diseases (Eye Disease) 08/01/2008 - "Heterozygosity for the transcription factor PAX6 causes eye disease in humans, characterized by corneal opacity. " 08/01/2005 - "Haploinsufficiency of the transcription factor Pax6/PAX6 has been implicated in a number of congenital eye disorders in humans and mice, such as aniridia and Small-eye, which affect the development and function of the lens, cornea, anterior eye segment and neuroretina. " 01/01/2017 - "The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams pursuing identification of human and mouse eye disease causing genes, cloning vertebrate homologues of pattern-forming regulatory genes identified in Drosophila, or abundant eye-specific transcripts. " 01/01/2020 - "Ocular co-expression of TRPM3 and miR-204 is upregulated by the paired box 6 transcription factor (PAX6) and mutations in all three corresponding genes underlie inherited forms of eye disease in humans including early-onset cataract, retinal dystrophy, and coloboma. "

Related Drugs and Biologics

1.	CXC Chemokines
2.	Proteins (Proteins, Gene)
3.	PAX6 Transcription Factor
4.	Cell-Penetrating Peptides
5.	Facilitative Glucose Transport Proteins (Glucose Transporter)
6.	Small Interfering RNA (siRNA)
7.	WT1 Proteins
8.	Adenomatous Polyposis Coli Protein
9.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)
10.	Cyclin-Dependent Kinases (cdk Proteins)