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Crystal structure of human PURA (fragment Glu57-Glu212, PUR repeat I and II) R140P mutantCrystal structure of human PURA (fragment Glu57-Glu212, PUR repeat I and II) R140P mutant
Structural highlights
DiseasePURA_HUMAN Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion;PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation. The disease is caused by variants affecting the gene represented in this entry. FunctionPURA_HUMAN This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. |
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