Gene: PAX6

Alternate names for this Gene: AN|AN1|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: paired box 6

Type of Gene: protein-coding

Gene: ELP4

Alternate names for this Gene: AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4

Gene Summary: This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: elongator acetyltransferase complex subunit 4

Type of Gene: protein-coding