Paired box protein: Difference between revisions
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<StructureSection load='6pax' size='340' side='right' caption='Structure of human PAX-6 complex with DNA (PDB code [[6pax]]).' scene=''> | <StructureSection load='6pax' size='340' side='right' caption='Structure of human PAX-6 pair box domain complex with DNA (PDB code [[6pax]]).' scene=''> | ||
== Function == | == Function == | ||
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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 | • '''PAX-6''' contain two 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''' regulates cell fate in C. elegans<ref>PMID:26953187</ref><br /> | • '''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<ref>PMID:15961562</ref>.<br /> | ||
== Disease == | == Disease == | ||
Mutations in PAX-6 are associated with aniridia, limbal stem cell deficiency and Peter’s anomaly<ref>PMID:26045558</ref>. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma<ref>PMID:8019556</ref>. | Mutations in PAX-6 are associated with aniridia, limbal stem cell deficiency and Peter’s anomaly<ref>PMID:26045558</ref>. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma<ref>PMID:8019556</ref>. | ||
== Structural highlights == | == Structural highlights == | ||