Pax6 - paired box 6

Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and minor groove of adenine-thymine-rich DNA binding activity. Involved in several processes, including cellular response to hormone stimulus; enteroendocrine cell differentiation; and nervous system development. Located in chromatin and nucleus. Used to study autistic disorder. Biomarker of Smith-Lemli-Opitz syndrome and transient cerebral ischemia. 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). [provided by Alliance of Genome Resources, Apr 2022]