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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PAX6 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5080
Official gene symbolPAX6
Full namepaired box 6
Aliases,AN,AN2,D11S812E,MGC17209,MGDA,WAGR,
Gene summaryThis gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene. [provided by RefSeq]
LocationChromosome: 11   Locus: 11p13
Gene position31839509 - 31806340  Map Viewer
Gene orientationminus
Gene size33170 bp
Gene sequence
OMIM ID607108