PAX6 : paired box 6
Description
The PAX6 (paired box 6) is a protein-coding gene located on chromosome 11.
The PAX6 gene is a member of the PAX gene family, which plays a critical role in the formation of tissues and organs during embryonic development and the maintenance of normal cell function after birth. PAX6 provides instructions for making a protein that acts as a transcription factor, controlling the activity of other genes. This protein is thought to activate genes involved in the formation of the eyes, brain and spinal cord, and pancreas. It is also involved in the development of olfactory bulb cells and plays a crucial role in eye development before birth. After birth, PAX6 protein likely regulates the expression of various genes in the eyes.
PAX6 is a transcription factor that plays a crucial role in the development of various tissues and organs, including the eye, nose, central nervous system, and pancreas. It is essential for the differentiation of pancreatic islet alpha cells and competes with PAX4 for binding to common regulatory elements in the promoters of glucagon, insulin, and somatostatin genes. PAX6 also regulates the specification of ventral neuron subtypes by establishing appropriate progenitor domains. Additionally, it acts as a transcriptional repressor of NFATC1-mediated gene expression.
PAX6 is also known as AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR.
Associated Diseases
- Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included
- Aniridia
- Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included
- Keratitis, hereditary
- Foveal hypoplasia-presenile cataract syndrome
- Autosomal dominant keratitis
- Peters anomaly
- Morning glory disc anomaly
- WAGR syndrome
- Optic nerve hypoplasia
- Anterior segment dysgenesis 5, multiple subtypes
- Isolated aniridia
- Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Coloboma, ocular
- Microphthalmia
- Coloboma
