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
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.
