Paired box protein
From Proteopedia
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'''Paired box protein''' (PAX) are transcription factors which contain paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix). | '''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-6''' contain 2 DNA-binding domains. It is a regulatory factor in eye and brain development. <br /> |
• '''PAX-5''' is associated with B-cell differentiation.<br /> | • '''PAX-5''' is associated with B-cell differentiation.<br /> | ||
| - | • '''PAX-3''' | + | • '''PAX-3''' regulates cell fate in C. elegans<ref>PMID:26953187</ref><br /> |
• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.<br /> | • '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.<br /> | ||
== Disease == | == 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 == | == Relevance == | ||
Revision as of 07:14, 14 June 2016
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3D Structures of paired box protein
Updated on 14-June-2016
References
- ↑ 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
