Deleted In Autism 1 (DIA1)

C3ORF58 contains several evolutionarily conserved binding sites for MEF2, CREB, and SRF, and depolarization-dependent transcription of C3ORF58 was strongly inhibited by RNA interference knockdown of the MEF2 transcription factor, which suggested that C3ORF58 may be a direct or indirect MEF2 target. The authors proposed renaming C3ORF58 as DIA1, 'deleted in autism-1'. Morrow et al. (2008) concluded that their findings suggested that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.In microarray screens using cultured rat hippocampal neurons, expression of C3ORF58 was robustly increased within 6 hours of membrane depolarization by elevated potassium chloride.