Relevance to Autism

Ward et al., 2023 presented five unrelated patients with de novo missense variants in the ZBTB47 gene and a phenotype characterized by developmental delay with moderate intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities; four of the five patients in this report were also diagnosed with autism spectrum disorder.

Molecular Function

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. 

External Links

References