Paired box protein

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. Mutations in PAX-6 are associated with aniridia and Peter’s anomaly.

• PAX-5 is associated with B-cell differentiation.
• PAX-3 mutations are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma.
• PAX-8 is associated with thyroid follicular cell development and expression of thyroid-specific genes.

Disease

Relevance

Structural highlights