What does the PAX6 gene do?

The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are also important for maintaining the normal function of certain cells after birth.

Does PAX6 activate multiple genes?

Pax6 deficiency causes defects in the expression of its target genes, linking its binding to a function in transcriptional regulation. Strikingly, our analysis also revealed a dual role for Pax6, in which it activates the neuronal (ectodermal) genes while concurrently represses the mesodermal and endodermal genes.

What do eyeless and PAX6 genes do?

Eyeless/Pax6 initiates eye formation non-autonomously from the peripodial epithelium. Development.

What type of protein does the gene PAX6 encode?

The vertebrate PAX6 locus encodes at least three different protein isoforms, these being the canonical PAX6, PAX6(5a), and PAX6(ΔPD). The canonical PAX6 protein contains an N-terminal paired domain, connected by a linker region to a paired-type homeodomain, and a proline/serine/threonine (P/S/T)-rich C-terminal domain.

Is PAX6 a transcription factor?

Pax6 is a highly conserved transcription factor among vertebrates and is important in various developmental processes in the central nervous system (CNS), including patterning of the neural tube, migration of neurons, and formation of neural circuits.

What is a possible consequence of a loss of function mutation in the PAX6 gene in humans?

Thus, it is likely that the PAX6 gene mutations, if seen in humans, may affect the function of the endocrine pancreas and thereby contribute to the onset of diabetes. Before its recent recognition as a pancreas factor, Pax6 had been known for years as a master regulator of eye development.

What developmental process is Pax6 involved in?

PAX6 plays a key role in the development of the brain where it affects cell fate, cell proliferation, and patterning. The paired domain is necessary for the regulation of neurogenesis, cell proliferation, and patterning effects of PAX6, whereas the homeodomain plays a lesser role in the brain.

Is Pax6 a transcription factor?

What do eyeless and Pax6 genes do and where can they be found?

The eyeless and Pax 6 genes control eye development. When the DNA sequence appears for these genes, eyes form, but, when it does not, they do not develop. The Pax 6 and eyeless genes have the ability to form an eye anywhere the gene is found, regardless of the section of the body.

What species have the Pax6 gene?

Pax6 was initially cloned from humans6, mice7 and zebrafish8. Two Pax6 paralogs–eyeless (ey) and twin of eyeless (toy)–have been identified in some higher insects: Drosophila melanogaster9,10, Apis mellifera11,12, Tribolium castaneum13 and Nasonia vitripennis14,15.

Where is Pax6 expressed?

CONCLUSIONS—PAX6 is expressed on the surface and neuroectoderms at an early stage, then in the differentiating cells in the cornea, lens, ciliary body, and retina through development. PAX6 may play a role in determining cell fate in the morphogenesis of various human ocular tissue.

Is the Pax6 gene homologous?

Pax6 is an ancient gene, homologous at least at the level of Bilateria. Following its origin, Pax6 was co-opted to become involved in the development of a number of different structures in different lineages.