Analysis of PAX6 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2461-LGZ)

Introduction

Official Full Name: paired box 6<br />Also known as: AN; AN1; AN2; FVH1; MGDA; WAGR; ASGD5; D11S812E<br />This gene encodes the paired box protein Pax-6, one of many human homologues of the Drosophila gene prd. The encoded protein contains a homeobox domain in addition to the conserved paired box domain, a hallmark feature of this gene family. These two domains are known to bind DNA and act as regulators of gene transcription. The activity of this protein is key to the development of nerve tissue, especially the eye. The gene is regulated by multiple enhancers located several hundred bases away from this site. Mutations in the gene or enhancer regions can cause eye disorders such as aniridia and Peter's anomaly. Use of alternative promoters and alternative splicing resulted in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a specific alternative coding exon has been shown to increase the length of the paired box domain and alter its DNA-binding specificity. Thus, isoforms carrying shorter paired box domains regulate a different set of genes than isoforms carrying longer paired box domains.