Matches in DBpedia 2016-04 for { ?s ?p "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.Pax6 is a transcription factor present during embryonic development. Theencoded protein contains two different binding sites that are known to bind DNAand function as regulators of gene transcription. It is a key regulatory gene of eyeand brain development. Within the brain, the protein is involved in development ofthe specialized cells that process smell. As a transcription factor, Pax6 activatesand/or deactivates gene expression patterns to ensure for proper development ofthe tissue. Mutations of the Pax6 gene are known to cause various disorders of theeyes. Two common disorders associated with a mutation are: aniridia, the absenceof the iris, and Peter’s anomaly, thinning and clouding of the cornea. Scientists havecreated a “tae” model using mice during which time the mouse does notexpress Pax6. The \"knockout” model is eyeless or has very underdeveloped eyesfurther indicating Pax6 is required for proper eye development."@en }
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- PAX6 abstract "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.Pax6 is a transcription factor present during embryonic development. Theencoded protein contains two different binding sites that are known to bind DNAand function as regulators of gene transcription. It is a key regulatory gene of eyeand brain development. Within the brain, the protein is involved in development ofthe specialized cells that process smell. As a transcription factor, Pax6 activatesand/or deactivates gene expression patterns to ensure for proper development ofthe tissue. Mutations of the Pax6 gene are known to cause various disorders of theeyes. Two common disorders associated with a mutation are: aniridia, the absenceof the iris, and Peter’s anomaly, thinning and clouding of the cornea. Scientists havecreated a “tae” model using mice during which time the mouse does notexpress Pax6. The \"knockout” model is eyeless or has very underdeveloped eyesfurther indicating Pax6 is required for proper eye development.".