Relevance to Autism

Whole-genome sequencing of 3109 samples across 1033 Chinese ASD families from the ACGC cohort in Tan et al., 2026 identified a de novo loss-of-function variant in the the ZBTB34 gene in an ASD proband from the ACGC cohort. TADA analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in the same report identified ZBTB34 as an ASD risk gene with a false discovery rate of <0.05; in addition to the loss-of-function variant dentified in the ACGC proband, four ASD-associated de novo missense variants were included in this analysis (two from previously published ASC probands from Fu et al., 2022, two from unpublished SPARK probands).

Molecular Function

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm

External Links

References