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
3D Structures of paired box protein
Updated on 23-July-2014
PAX-6
6pax – hPAX + DNA - human
2cue – hPAX homeodomain – NMR
PAX-5
1mdm, 1k78 – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA
PAX-3
3cmy – hPAX homeodomain – NMR
PAX-8
2k27 – hPAX paired domain - NMR
References
