Paired box protein

From Proteopedia

Revision as of 07:19, 14 June 2016

spinqualitylabelsall models Structure of human PAX-6 complex with DNA (PDB code 6pax). Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image Contents 1 Function 2 Disease 3 Relevance 4 Structural highlights 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, limbal stem cell deficiency and Peter’s anomaly[2]. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma[3]. Relevance Structural highlights

3D Structures of paired box protein

Updated on 14-June-2016

References

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
2. ↑ Li G, Xu F, Zhu J, Krawczyk M, Zhang Y, Yuan J, Patel S, Wang Y, Lin Y, Zhang M, Cai H, Chen D, Zhang M, Cao G, Yeh E, Lin D, Su Q, Li WW, Sen GL, Afshari N, Chen S, Maas RL, Fu XD, Zhang K, Liu Y, Ouyang H. Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease. J Biol Chem. 2015 Aug 14;290(33):20448-54. doi: 10.1074/jbc.M115.662940. Epub, 2015 Jun 4. PMID:26045558 doi:http://dx.doi.org/10.1074/jbc.M115.662940
3. ↑ Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat. 1994;3(3):205-11. PMID:8019556 doi:http://dx.doi.org/10.1002/humu.1380030306