Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene. [5] PAX6 is a member of the Pax gene family which is responsible for carrying the genetic information that will encode the Pax-6 protein.

2024年12月25日 · 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.

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.

2016年2月9日 · Pax6 is a highly conserved transcription factor among vertebrates and is important in various aspects of the central nervous system development. However, the gene regulatory circuitry of Pax6...

The Pax6 gene was originally identified in mice and humans 30 years ago via genetic analyses of the eye phenotypes. The human PAX6 gene was discovered in patients who suffer from WAGR syndrome (i.e., Wilms tumor

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 called anirida, genitourinary anomalies, and intellectual disability (formerly referred to as ...

PAX6，即配对框基因6，是一种在进化上高度保守的转录因子，由PAX6基因编码。 它在眼睛、大脑、鼻子和胰腺等器官的发育中起着至关重要的作用。 PAX6通过结合特定的DNA序列，调控下游基因的表达，从而参与多种生物学过程，包括胚胎发育和器官形成。 PAX6的功能异常与多种眼部疾病相关，如先天性白内障、无虹膜和小眼球症等。 此外，PAX6还涉及到肿瘤发生等过程，其在肿瘤中的表达变化可能影响肿瘤细胞的增殖和分化。 PAX6参与的信号通路包括但不限 …

2012年9月1日 · Pax6 is required for initiation of developmental pathways, patterning of epithelial tissues, activation of tissue-specific genes and interaction with other regulatory pathways. Herein we examine the data accumulated over the last few decades from extensive analyses of biochemical modules and genetic manipulation of the Pax6 gene.

2025年2月8日 · 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.

4 天之前 · 1 Introduction. The PAX6 gene, located on chromosome 11p13, encodes a highly conserved transcription factor that acts as a master controller of eye development [].The 422 amino acid PAX6 protein contains a DNA-binding paired domain (PD) and paired homeodomain (HD) separated by a flexible linker, along with a C-terminal region enriched with proline–serine–threonine (PST), which acts as a ...