The PAX6 protein 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].
[2]
Function
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[3]
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
This is a sample scene created with SAT to by Group, and another to make of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
