Paired box protein: Difference between revisions
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<StructureSection load='6pax' size=' | <StructureSection load='6pax' size='350' side='right' caption='Structure of human PAX-6 pair box domain complex with DNA (PDB code [[6pax]]).' scene='59/595752/Cv/1' pspeed='8'> | ||
== Function == | == Function == | ||
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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 == | |||
*<scene name='59/595752/Cv/2'>PAX-6 N-terminal domain/DNA interactions</scene>. Water molecules are shown as red spheres. | |||
*<scene name='59/595752/Cv/3'>PAX-6 C-terminal domain/DNA interactions</scene>. | |||
</StructureSection> | </StructureSection> | ||
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{{#tree:id=OrganizedByTopic|openlevels=0| | {{#tree:id=OrganizedByTopic|openlevels=0| | ||
*PAX- | *PAX-3 | ||
**[[ | **[[3cmy]] – hPAX homeodomain – NMR - human<br /> | ||
*PAX-5 | *PAX-5 | ||
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**[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br /> | **[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br /> | ||
*PAX- | *PAX-6 | ||
**[[ | **[[6pax]] – hPAX + DNA<br /> | ||
**[[2cue]] – hPAX homeodomain – NMR<br /> | |||
*PAX-8 | *PAX-8 | ||