Zinc finger protein 407 (ZNF407)

Zinc finger protein 407 (ZNF407) is a large nuclear protein with 22 zinc finger domains, functioning as a transcription factor involved in transcriptional regulation, especially during fetal brain development[1][2][3][6]. Mutations in ZNF407 are linked to an autosomal recessive cognitive impairment syndrome, characterized by intellectual disability, short stature, microcephaly, hypotonia, and various dysmorphic features[1][3][6]. The gene is highly conserved, produces multiple isoforms by alternative splicing, and is expressed in most tissues, particularly the brain and nervous system[1][4]. ZNF407 encodes a protein primarily localized in the nucleus, believed to mediate gene regulation, though its precise gene targets and mechanisms remain unclear[1][2]. Pathogenic mutations disrupt DNA-binding by altering zinc finger domain structure, impacting regulation of genes important for neural development[1]. No evidence currently supports its use as a drug target, involvement in common drug interactions, or a role as a clinical biomarker[1][3][6]. Clinical phenotypes linked to ZNF407 loss-of-function are distinctive and suggest essential developmental roles but are not typical of an established therapeutic target[1][6].

Other names

KIAA1703FLJ20307FLJ13839SIMHAZNF407