PAX6
Also known as AN, AN2, D11S812E, FVH1, MGDA, WAGR, paired box 6, ASGD5
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.
Gene data
PAX6- Name
- paired box 6
- Type
- protein-coding
- Position
- 31,784,779–31,817,961 (−)
- Aliases
- AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
- Ensembl
- ENSG00000007372
- RefSeq RNA
- NM_000280.6, NM_001127612.3, NM_001258462.3, NM_001258463.2, NM_001258464.2
- RefSeq protein
- NP_000271.1, NP_001121084.1, NP_001245391.1, NP_001245392.1, NP_001245393.1
This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene 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 results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019].
Article
11 sectionsContents
- Function
- Role in human fetal development
- References for Role in Human Fetal Development
- Species distribution
- Isoforms
- Clinical significance
- Mutations
- See also
- References
- Further reading
- External links
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.
== Function == PAX6 is a member of the Pax gene family which is responsible for carrying the genetic information that will encode the Pax-6 protein. It acts as a "master control" gene for the development of eyes and other sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues. However, it has been recognized that a suite of genes is necessary for eye development, and therefore the term of "master control" gene may be inaccurate. Pax-6 is expressed as a transcription factor when neural ectoderm receives a combination of weak Sonic hedgehog (SHH) and strong TGF-Beta signaling gradients. Expression is first seen in the forebrain, hindbrain, head ectoderm and spinal cord followed by later expression in midbrain. This transcription factor is most noted for its use in the interspecifically induced expression of ectopic eyes and is of medical importance because heterozygous mutants produce a wide spectrum of ocular defects such as aniridia in humans.