Full name: paired box 6

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: 1500038E17Rik; AEY11; Dey; Gsfaey11; Pax-6; Sey

Summary: This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]

Expression: Biased expression in cerebellum adult (RPKM 9.1), whole brain E14.5 (RPKM 7.7) and 6 other tissues

Gene size: 29515bp

Exon count: 16