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Symbol PAX6 contributors: mct/shn - updated : 02-06-2017
HGNC name paired box 6
HGNC id 8620
corresponding disease(s) AN , ASMD3 , ECTP , FVH , OPNAB , WAGR , KRTT , GLSPS
related resource PAX6 Mutation Database - Aniridia Type II
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
causes hypoplasia of the anterior commissure and reduced olfaction
constitutional       loss of function
leading to absence of the anterior commissure without callosal agenesis and absence of pineal gland, disruption of axonal guidance
constitutional germinal mutation      
constitutional     --low  
gastric expression is down-regulated in H. pylori infection and incisural antralisation
constitutional     --over  
causes defects of retinal axons, preventing their normal growth and navigation through the optic chiasm
constitutional       loss of function
induces limbal stem or progenitor cells (LSCs) into skin-like epithelium, a critical defect tightly linked to common human corneal diseases
Susceptibility to extreme myopia
Variant & Polymorphism
Candidate gene
  • for polymicrogyria
  • haploinsufficiencies of PAX6 is a candidate gene for severe developmental delay and autistic features characteristic of WAGR syndrome
  • Marker
    Therapy target
  • Pax6(+/-) mice display corneal abnormalities (
  • overexpression of Pax6DeltaPD causes a severe microphthalmic phenotype in both wild-type and Pax6-deficient (Sey(/+)) mice in a dosage-dependent manner (
  • homozygous mutant mice for Pax6 are characterized by markedly decreased pancreatic beta and delta cells and absent alpha cells
  • Silencing the Pax6 gene with short interfering RNA resulted in an inhibited growth and an increased apoptosis of cultured human retinoblastoma cells (