Target intelligence / Profile preview

Zinc finger protein 462 (ZNF462)

Target
ZNF462
Molecular classification
Transcription factor (zinc finger C2H2-type), Other (Epigenetic/chromatin regulator—by mechanism but not a canonical class)
01

Overview

Zinc finger protein 462 is a large, nuclear **transcription factor** belonging to the C2H2-type zinc finger protein family[1][4]. It is involved in **regulation of gene expression by binding DNA and organizing chromatin structure**, which is essential for proper embryonic development, especially of neural and craniofacial tissues. Mutations in ZNF462 are causative for **Weiss-Kruszka syndrome**, an autosomal dominant, neurodevelopmental disorder marked by developmental delay, intellectual disability, hypotonia, distinct craniofacial features, and other congenital anomalies. The protein plays roles in **pluripotency and differentiation of embryonic stem cells, neuronal differentiation**, and may interact with other chromatin modifiers (such as ASXL2). ZNF462 is essential for early developmental processes, and mouse models show that complete loss is embryonic lethal, underscoring its fundamental role in gene regulation during development[1][4][5][6]. **No drugs are currently known to target ZNF462, and it is not classified as a druggable therapeutic target or receptor.**

Other names
ZNF462KIAA1803ZFPIPDKFZP762N2316Zinc finger PBX1-interacting proteinWSKA (context: Weiss-Kruszka syndrome, gene defect)Zfp462 (mouse ortholog)
02

Mechanism of action

Not applicable for drugs (no drugs known to target ZNF462 directly)

03

Biological functions

Transcriptional regulationChromatin structure and organizationEmbryonic stem cell pluripotency and differentiationNeuronal development and neural cell differentiation
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Disease associations

Neurodevelopmental disorders (Weiss–Kruszka syndrome)Craniofacial and developmental syndromesGrowth hormone deficiency (as part of Weiss-Kruszka syndrome spectrum)Other (Potential involvement in psychiatric/behavioral phenotypes)
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Biomarkers

Pathogenic variants in ZNF462 serve as genetic biomarkers for diagnosis of Weiss–Kruszka syndrome

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