Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

doi:10.1038/ng1192-232

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Article

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Nature genetics - 1 Nov 1992

Glaser T, Walton D S, Maas R L

Abstract excerpt

Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for aniridia, results from defects in Pax-6, a gene containing paired-box and homeobox motifs that is specifically expressed in the developing eye and brain. To test the role of PAX6 in aniridia, we isolated human cDNA clones and...

Topics

Amino Acid Sequence
Animals
Aniridia
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 11
Cloning, Molecular
Conserved Sequence
DNA
DNA Mutational Analysis
DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA-Binding Proteins

Exons

Eye Proteins

Female

Homeodomain Proteins

Humans

Introns

Source

Open in PubMed

Identifiers

PMID: 1345175
DOI: 10.1038/ng1192-232

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1345175-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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