Function
Paired box protein (PAX) are transcription factors which contain paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix).
• PAX-6 contain 2 DNA-binding domains. It is a regulatory factor in eye and brain development.
• PAX-5 is associated with B-cell differentiation.
• PAX-3 regulates cell fate in C. elegans[1]
• PAX-8 is associated with thyroid follicular cell development and expression of thyroid-specific genes.
Disease
Mutations in PAX-6 are associated with aniridia and Peter’s anomaly. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma.
Relevance
Structural highlights
