Structural highlights
Disease
PURA_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.
Function
PURA_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.
