The PAX6 protein, expressed by the PAX6 gene in humans, is a transcription factor necessary for the development of the eye, parts of the central nervous system,and crucial parts of the endocrine system including the pituitary gland, pineal gland, and pancreas [1]. It is a member of a family of highly conserved transcription factors found across a wide range of species including humans, mice, zebrafish, and many others[2].
Function
PAX6 binds to the major and minor groove of DNA[3] and is largely localized in tissues of the developing and mature eye, where it catalyzes the transcription of many key genes necessary for the proper development of the eye. This includes key structural proteins in areas such as the crystallins[4], whose presence or absence are integral to the proper structure and opacity of the lens throughout the various stages of eye development maintenance of lens homeostasis[5], as well as triggering the differentiation of retinal stem cells associated with proper development and maintenance of the retinal structures[4]. PAX6 expression is also implicated in the proper development of the endocrine system, including the development of the pancreas and proper secretion of hormones responsible for the maintenance of proper blood sugar levels[4].
Disease
Mutations in the PAX6 gene are implicated in several diseases in humans, including congenital aniridia both as a standalone disease and also as a part of WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation syndrome[6]
While the hallmark of aniridia is the patient either lacking an iris or possessing a rudimentary stump of an iris, the disease bears a high incidence of panocular manifestations such as foveal hypoplasia, the underdevelopment of the optic nerve, and a high incidence of aniridia mutations that lead to the patient possessing only one functional copy of the PAX6 gene (particularly premature termination codons, frame shift mutations, or whole gene deletions
Relevance
Structural highlights
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The between the N-terminal and C-terminal domains of PAX6 consists of 15 residues and binds with the sugar phosphate backbone in the minor groove of the DNA being transcribed[3].
