PAX6 Antibody [PAX6/498]

PAX genes contain paired domains with strong homology to genes in Drosophila, which are involved in programming early development. Lesions in the PAX6 gene account for most cases of aniridia, a congenital malformation of the eye, chiefly characterized by iris hypoplasia, which can cause blindness. PAX6 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 PAX6 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 PAX6 gene produces two alternatively spliced isoforms that have the distinct structure of the paired domain.