Rabbit anti-Human PAX6 Polyclonal Antibody

Uniprot Id

P26367

Target Species

Human

Target Name

PAX6

Target Full Name

Paired box protein Pax-6

Target Function

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression.

Target Involvement

Aniridia 1 (AN1); Anterior segment dysgenesis 5 (ASGD5); Foveal hypoplasia 1 (FVH1); Keratitis hereditary (KERH); Coloboma, ocular, autosomal dominant (COAD); Coloboma of optic nerve (COLON); Bilateral optic nerve hypoplasia (BONH); Aniridia 2 (AN2)

Target Subcellular Location

Nucleus.; [Isoform 1]: Nucleus.; [Isoform 5a]: Nucleus.

Target Protein Families

Paired homeobox family

Target Tissue Specificity

[Isoform 1]: Expressed in lymphoblasts.; [Isoform 5a]: Weakly expressed in lymphoblasts.

Target Research Area

Developmental Biology

Target Synonyms

AN 2; AN; AN2; Aniridia type II protein; D11S812E; FVH1; KIAA0552; Leucine zipper putative tumor suppressor 3; LZTS3; MGC17209; MGDA; Oculorhombin; Paired box 6; Paired box gene 6 (aniridia keratitis); Paired Box Gene 6; Paired box homeotic gene 6; Paired box protein Pax-6; Paired box protein Pax6; PAX 6; PAX6; PAX6_HUMAN; ProSAP-interacting protein 1; PROSAPIP1; Sey; WAGR

Target Background

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain.