Relevance to Autism

One de novo loss-of-function (LoF) variant and two de novo missense variants in the ZBTB21 gene have been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Iossifov et al., 2014; Zhou et al., 2022), while an additional four protein-truncating variants in ZBTB21 were observed in ASD probands, compared to none in controls, from a case-control cohort (Trost et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified ZBTB21 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; POZ domain binding activity; and methyl-CpG binding activity. Involved in negative regulation of transcription by RNA polymerase II.

External Links

References