Transcriptional activator protein Pur-alpha

Pur-alpha (PURA) is a transcriptional activator protein that specifically binds purine-rich DNA sequences, particularly the PUR element upstream of the MYC gene (UniProt: Q00577). It likely plays roles in transcriptional regulation, DNA replication initiation, and recombination.

PURA is associated with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF), an autosomal dominant condition characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional features include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features (UniProt: Q00577).

PURA is classified as a category 2 syndromic autism-associated gene in the SFARI database (SFARI Cat 2), indicating evidence for involvement in syndromic autism presentations linked to its neurodevelopmental disease associations.