Zinc finger and BTB domain-containing protein 24 (ZBTB24)

Zinc finger and BTB domain-containing protein 24 (ZBTB24) is a member of the BTB-zinc finger family of transcription factors characterized by the presence of an N-terminal BTB (POZ) domain, a C-terminal domain with eight tandem C2H2-type zinc fingers, and an AT-hook motif[1][4][5]. The protein is highly conserved and plays a critical role in transcriptional activation, shown to positively regulate genes including CDCA7[1][4]. ZBTB24 mutations cause immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 (ICF2), a rare autosomal recessive disorder marked by DNA hypomethylation and antibody deficiency[1][4][5]. Disease-associated missense mutations in ZBTB24 disrupt its DNA-binding or chromatin localization functions, impairing downstream gene activation[1][4]. While ZBTB24 is central in genomic stability and immune system function, there are currently no drug interactions or therapeutic targeting strategies reported[5].

Other names

KIAA0441ZNF450BIF1PATZ2ICF2POZ (BTB) and AT hook containing zinc finger 2zinc finger protein 450