ZNF668 Chromosome 16
Zinc finger protein 668
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000167394
Associated Conditions (8)
marked facial dysmorphism
Profound global developmental delay
Progressive microcephaly
Failure to thrive
Neurodevelopmental disorder with poor growth
large ears
and dysmorphic facies
Severe short-limb dwarfism
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1178162893 | Health Risk | Pathogenic | marked facial dysmorphism, Profound global developmental delay, Progressive microcephaly |
| RS2143756208 | Health Risk | Pathogenic | marked facial dysmorphism, Profound global developmental delay, Progressive microcephaly |