Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables several functions, including SMAD binding activity; enzyme binding activity; and nucleic acid binding activity. Involved in several processes, including nervous system development; pancreatic A cell development; and regulation of gene expression. Acts upstream of or within several processes, including camera-type eye development; nervous system development; and regulation of neuroblast proliferation. Located in chromatin and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; eye; and nose. Used to study Peters anomaly; aniridia; cataract; and juvenile glaucoma. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).
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