PAX6 Recombinant Rabbit Monoclonal Antibody

Function

Pax genes contain paired domains with strong homology to genes in Drosophila which are involved in programming early development. Lesions in the Pax-6 gene account for most cases of aniridia, a congenital malformation of the eye, chiefly characterized by iris hypoplasia, which can cause blindness. Pax-6 is involved in other anterior segment malformations besides aniridia, such as Peters anomaly, a major error in the embryonic development of the eye with corneal clouding with variable iridolenticulocorneal adhesions. The Pax-6 gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains, the amino-terminal subdomain and the carboxy-terminal subdomain, which bind respective consensus DNA sequences. The human Pax-6 gene produces two alternatively spliced isoforms that have the distinct structure of the paired domain.

Background References

1. Guye P et al. Genetically engineering self-organization of human pluripotent stem cells into a liver bud-like tissue using Gata6. Nat Commun 7:10243 (2016).

2. Maury Y et al. Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes. Nat Biotechnol 33:89-96 (2015).

Sequence Similarity

Belongs to the paired homeobox family.

Tissue Specificity

Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Post-translational Modification

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.

Subcellular Location

Nucleus.

UNIPROT

SwissProt: P63015 Mouse

Synonyms