CoraLite® Plus 647-conjugated PAX6 Polyclonal antibody

Background

Paired-box 6 (Pax6) is a highly conserved nuclear transcription factor that is key in neural tissue development, particularly eye morphogenesis.

What is the molecular weight of Pax6?

46.6 kDa. Pax6 is composed of 422 amino acids and contains a paired domain and a homeodomain.

What is the role of Pax6 in development?

In embryos, Pax6 is expressed in the developing central nervous system (CNS), eye, nose, and also in the pancreas. As a transcription factor, Pax6 is one of the earliest genes expressed in the eye and regulates the expression of many genes required for retinal and olfactory development (PMID: 10461206). The broad expression of Pax6 in the neuroectoderm, which develops to the CNS, makes it a useful marker for neural stem cells (PMID: 20621053).

The homology of Pax6 to the Drosophila gene eyeless and the mouse gene Small eye highlights its importance across a wide spectrum of organisms. In model organisms such as flies or mice, a dramatic phenotype can be seen. Mutations in eyeless lead to ectopic eye development and mice with heterozygote small eye mutations do not develop eyes or nasal cavities, and homozygote small eye mice do not survive (PMID: 7892602; PMID 8875254).

What is the role of Pax6 in eye disease?

Due to its key role as a master regulator in eye development, mutations in Pax6 have been associated with many different eye diseases. In humans, premature stop signals that lead to the production of a truncated protein have been found to cause aniridia, the absence of an iris (PMID: 19898691). Single amino acid mutations in Pax6 may lead to Peters' anomaly, which causes thinning and clouding of the cornea (PMID: 8162071).