ZNF668

Chr 16AR

zinc finger protein 668

Also known as: NEDGEF

NCBI Gene: 79759 ENSG00000167394 UniProt: Q96K58 OMIM: 617103

ZNF668 encodes a zinc finger transcription factor that functions as a DNA-binding transcriptional repressor and is involved in DNA repair processes. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by poor growth, large ears, and dysmorphic facial features. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), consistent with its role in essential cellular processes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and zinc ion binding activity. Involved in DNA repair. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.521 OMIM phenotype

Clinical Summary— ZNF668

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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