ZGPAT
Chr 20zinc finger CCCH-type and G-patch domain containing
Also known as: GPATC6, GPATCH6, KIAA1847, ZC3H9, ZC3HDC9, ZIP
ZGPAT encodes a transcription repressor that binds specific DNA sequences and recruits the NuRD chromatin complex to repress target gene expression, including negative regulation of EGFR signaling. Biallelic mutations cause autosomal recessive White-Sutton syndrome, characterized by intellectual disability, developmental delay, and distinctive facial features with typical onset in early childhood. The gene shows tolerance to loss-of-function variants (pLI 0.0004), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZGPAT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools