Aliases: PLZF, ZNF145
Chromosome No: 11
Chromosome Band: 11q23.2
Genetic Category: Genetic association-Rare single gene variant-Functional
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
A SNP within the ZBTB16 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012). A rare damaging missense variant in ZBTB16 was identified in both affected siblings in a Sardinian multiplex ASD family (Bacchelli et al., 2019). Deletion of Zbtb16 in mice was found to result in social impairment, repetitive behaviors, risk-taking behaviors, and cognitive impairment (Usui et al., 2021).
Molecular Function
This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase.
External Links
