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

Structure of human PAX-6 complex with DNA (PDB code 6pax).

Drag the structure with the mouse to rotate

3D Structures of paired box protein3D Structures of paired box protein

Updated on 14-June-2016

ReferencesReferences

  1. Thompson KW, Joshi P, Dymond JS, Gorrepati L, Smith HE, Krause MW, Eisenmann DM. The Paired-box protein PAX-3 regulates the choice between lateral and ventral epidermal cell fates in C. elegans. Dev Biol. 2016 Apr 15;412(2):191-207. doi: 10.1016/j.ydbio.2016.03.002. Epub 2016, Mar 4. PMID:26953187 doi:http://dx.doi.org/10.1016/j.ydbio.2016.03.002

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Michal Harel, Alexander Berchansky