|
|
| Gene : |
PAX6 |
| Gene ID : |
5080 |
| Uniprot ID : |
P26367 |
| Alternative Name : |
PAX6, AN2 |
| Format : |
Purified |
| Amount : |
100 µg |
| Clone name : |
PAX6/498 |
| Isotype : |
Mouse IgG1, kappa |
| Immunogen Information : |
Recombinant fragment (N-terminus; aa 1-300) of human PAX6 protein |
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.
Flow Cytometry (0.5-1ug/million cells); ,Immunofluorescence (0.5-1ug/ml); ,Western Blot (1-2ug/ml);,
