Dec 25, 2024 · PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include Coloboma Of Optic Nerve and Foveal Hypoplasia 1. Among its related pathways are Incretin synthesis, secretion, and inactivation and Regulation of beta-cell development.

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.

Pax6 is a sequence-specific DNA binding transcription factor that positively and negatively regulates transcription and is expressed in multiple cell types in the developing and adult central nervous system (CNS). As indicated by the morphological ...

Feb 8, 2025 · Title: PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility. A positive feedback inhibition of isocitrate dehydrogenase 3beta on paired-box gene 6 promotes Alzheimer-like pathology.

Paired box 6 (PAX6) is a transcription factor crucial for the development of the eye, brain, olfactory system, and endocrine pancreas. Heterozygous mutations in the PAX6 gene, which result in the production of a truncated, non-functional protein (9), cause abnormal iris formation (aniridia) and impaired glucose tolerance (10).

PAX6 is a key transcription factor involved in brain development and has crucial roles in eye formation and brain development. It regulates the expression of many genes during corticogenesis and is responsible for balancing the proliferation and differentiation of neural stem/progenitor cells.

Feb 9, 2016 · These findings demonstrate new aspects of the gene regulatory circuitry of Pax6, revealing how it functions to control neuronal development at multiple levels to ensure unidirectionality and...

The transcription factor Pax6 is a developmental regulator with a crucial role in development of the eye, brain, and olfactory system. Pax6 is also required for correct development of the endocrine pancreas and specification of hormone producing endocrine cell types.

Nov 30, 2020 · PAX6 ; Function of gene/protein: Protein: Paired box 6; Regulates other genes by binding to specific DNA regions (transcription factor) During embryonic development, PAX6 activates genes involved in eye, central nervous system and pancreas development

The PAX6 gene is located in a region of chromosome 11 that is deleted in people with WAGR syndrome, which is a disorder that affects many body systems and is named for its main features: a childhood kidney cancer known as Wilms tumor, an eye problem