ZNF668

Chr 16

zinc finger protein 668

Also known as: NEDGEF

NCBI Gene: 79759 ENSG00000167394 UniProt: Q96K58

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.

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with poor growth, large ears, and dysmorphic facies

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

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Mechanism

Some data sources returned errors (1)

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