Aliases: CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1
Chromosome No: 7
Chromosome Band: 7p12.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
A number of de novo variants in the IKZF1 gene, including a potentially deleterious de novo missense variant, have been observed in ASD probands (De Rubeis et al., 2014; Turner et al., 2016; Yuen et al., 2016; Yuen et al., 2017; Turner et al., 2017). A de novo non-coding variant that was predicted to target the IKZF1 gene via chromatin interactions was identified in a Korean ASD proband from a simplex family in Kim et al., 2022; functional analysis in human induced pluripotent stem cells derived from the proband and the proband's parents demonstrated that this variant resulted in significantly reduced levels of IKZF1 expression in patient-derived hiPSCs compared to parent-derived hiPSCs.
Molecular Function
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation.
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