PAX6
PAX6 (paired box 6) is a nuclear transcription factor of the paired homeobox family that drives development of the eye, nose, central nervous system and pancreas. It is also known as aniridia type II protein-associated names such as AN, AN1, AN2, WAGR and D11S812E. Browse Assay Genie's current range of PAX6 research reagents below, or read on for the biology behind the target.
PAX6 is a transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. In the pancreas it is required for the differentiation of islet alpha cells, and it competes with PAX4 for binding to a common element in the glucagon, insulin and somatostatin promoters. In the nervous system it regulates the specification of ventral neuron subtypes by establishing the correct progenitor domains. It also acts as a transcriptional repressor of NFATC1-mediated gene expression.
The PAX6 gene encodes paired box protein Pax-6, one of many human homologues of the Drosophila melanogaster gene prd. The protein carries two DNA-binding domains, the conserved paired box that characterises the family and a homeobox, and both regulate gene transcription. HGNC places it in the PRD class homeoboxes and the paired boxes gene groups. The gene is regulated by multiple enhancers located up to hundreds of kilobases from the locus, and it has mouse and rat orthologs, both named Pax6.
Use of alternate promoters and alternative splicing produces multiple transcript variants that encode different isoforms. Inclusion of one alternate coding exon lengthens the paired box domain and alters its DNA-binding specificity, so isoforms with the shorter paired box regulate a different set of genes from those with the longer one. Mutations in the gene or in its enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. The earlier HGNC name, paired box gene 6 (aniridia, keratitis), reflects this disease association.
PAX6 activity is key to neural tissue development, particularly the eye, and its mutation is linked to aniridia and Peter's anomaly.
PAX6 specifies ventral neuron subtypes by establishing the correct progenitor domains, making it central to central nervous system development.
PAX6 is required for islet alpha cell differentiation and competes with PAX4 at glucagon, insulin and somatostatin promoters.
Paired box and homeobox domains bind DNA, and isoform-specific paired box length changes which genes PAX6 regulates.
PAX6 is a nuclear transcription factor needed for development of the eye, nose, central nervous system and pancreas. It supports islet alpha cell differentiation, shapes ventral neuron progenitor domains and represses NFATC1-mediated gene expression. Its paired box and homeobox domains both bind DNA.
PAX6 is also known as D11S812E, AN, WAGR, AN1 and AN2, and was previously named paired box gene 6 (aniridia, keratitis). Alternate promoters and splicing yield several isoforms. Inclusion of one alternate exon lengthens the paired box and changes DNA-binding specificity.
Mutations in PAX6 or its distant enhancers can cause ocular disorders such as aniridia and Peter's anomaly. Mouse and rat both carry a Pax6 ortholog; check the datasheet of any product for its validated reactivity.
Other paired box transcription factors from the same gene group with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P26367; product specifications from Assay Genie datasheets.