Paired box protein: Difference between revisions
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
<StructureSection load='6pax' size='400' side='right' caption='Structure of human PAX-6 pair box domain complex with DNA (PDB code [[6pax]]).' scene='59/595752/Cv/1'> | <StructureSection load='6pax' size='400' 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 == | ||
| Line 14: | Line 14: | ||
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>. | |||
*<scene name='59/595752/Cv/3'>PAX-6 C-terminal domain/DNA interactions</scene> | |||
</StructureSection> | </StructureSection> | ||