| PAX6 — Paired Box 6 | |
|---|---|
| Symbol | PAX6 |
| Full Name | Paired Box 6 |
| Chromosome | 11p13 |
| NCBI Gene | 5080 |
| Ensembl | ENSG00000061676 |
| OMIM | 607108 |
| UniProt | P26367 |
| Protein | [PAX6 Protein](/proteins/pax6) |
| Diseases | Aniridia, Wilms Tumor, Aniridia-Genitourinary-Malformations (AGR) Syndrome, Neurodevelopmental Disorders |
| Inheritance | Autosomal Dominant |
| Expression | Developing eye, Brain (forebrain, cortex, hippocampus), Olfactory epithelium, Pancreas |
Pax6 — Paired Box 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
PAX6 (Paired Box 6) encodes a transcription factor containing both a paired domain and a homeodomain. PAX6 is a master regulatory gene essential for embryonic development, particularly of the eye, brain, and pancreas. It controls the expression of numerous downstream genes involved in cell proliferation, differentiation, and tissue morphogenesis. Heterozygous loss-of-function variants cause ocular anomalies, while homozygous variants lead to more severe neurodevelopmental defects.
PAX6 acts as a transcription factor with critical functions:
The most common phenotype of PAX6 haploinsufficiency:
PAX6 variants can cause:
Paradoxically, PAX6 has protective roles in the adult brain:
PAX6 expression during development:
In adult brain:
The study of Pax6 — Paired Box 6 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Georgala PA, et al. (2015). PAX6 in development and disease. Current Opinion in Genetics & Development, 32, 67-71. https://doi.org/10.1016/j.gde.2015.01.004
Sun Y, et al. (2020). PAX6 in neurodegenerative diseases. Frontiers in Cellular Neuroscience, 14, 157. https://doi.org/10.3389/fncel.2020.00157
Mitchell PN, et al. (2021). PAX6 and neurodegeneration: protective effects in Alzheimer's disease models. Neurobiology of Disease, 158, 105454. https://doi.org/10.1016/j.nbd.2021.105454
Simpson TI, et al. (2009). Pax6 expression during optic cup regeneration in the eye. Developmental Dynamics, 238(9), 2286-2299. https://doi.org/10.1002/dvdy.21990
Zhang X, et al. (2010). PAX6 mutations and genotype-phenotype correlations in aniridia. Human Mutation, 31(6), 612-620. https://doi.org/10.1002/humu.21253