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FLASH GENE

Symbol

PAX6

contributors: mct/shn - updated : 02-06-2017

HGNC name	paired box 6
HGNC id	8620

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AN , ASMD3 , ECTP , FVH , OPNAB , WAGR , KRTT , GLSPS

related resource

PAX6 Mutation Database - Aniridia Type II

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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       polymicrogyria 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 constitutional germinal mutation       in microphthalmia

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

ANIMAL & CELL MODELS

	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 (