Gene Symbol | PAX6 |
Entrez Gene ID | 5080 |
Full Name | paired box 6 |
Synonyms | AN,AN2,ASGD5,D11S812E,FVH1,MGDA,WAGR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. |
Disorder MIM: | |
Disorder Html: | Aniridia, 106210 (3); Cataract with late-onset corneal dystrophy, 106210 (3); Anterior segment dysgenesis 5, multiple subtypes, 604229 (3); Foveal hypoplasia 1, 136520 (3); Keratitis, 148190 (3); Optic nerve hypoplasia, 165550 (3); ?Morning glory disc anomaly, 120430 (3); ?Coloboma of optic nerve, 120430 (3); ?Coloboma, ocular, 120200 (3) |