Zinc finger protein 408 (ZNF408)

Zinc finger protein 408 (ZNF408) is a 720-amino acid transcription factor belonging to the C2H2 zinc finger family, characterized by 10 tandem C2H2-type zinc finger motifs essential for DNA binding[1][2][4][5]. It also contains a predicted SET domain implicated in protein–protein interactions that regulate chromatin structure and gene expression[1]. ZNF408 localizes primarily to the cell nucleus and plays critical roles in retinal vasculature development, as supported by animal model studies[1][3]. Mutations in ZNF408 have been causally linked to familial exudative vitreoretinopathy (FEVR), an inherited retinal vascular disease, and to a lesser extent, retinitis pigmentosa 72. In affected individuals, specific missense mutations can cause mislocalization of the protein and dominant-negative effects impairing protein function[1][5]. ZNF408 is not currently a direct drug target but serves as a disease gene and genetic biomarker for clinical diagnosis of FEVR.

Other names

ZNF408PFM14PRDM17FLJ12827EVR6RP72PR domain zinc finger protein 17PR/SET domain 17

Not applicable; ZNF408 is a transcription factor rather than a conventional pharmacological target. Mutations in ZNF408 may act in a dominant-negative fashion, disrupting normal protein localization and function