ZNG1C
Chr 9Zn regulated GTPase metalloprotein activator 1C
Also known as: CBWD3, bA561O23.1
ZNG1C encodes a zinc chaperone that transfers zinc cofactor to target metalloproteins, specifically catalyzing zinc insertion into methionine aminopeptidase METAP1 to activate its function in cleaving initiator methionine from newly synthesized proteins. The gene is highly constrained against loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental disorders, though specific associated phenotypes have not yet been established in humans. Any resulting condition would be expected to follow an autosomal recessive inheritance pattern given the gene's tolerance metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
ZNG1C · 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 →No open access results found
External Resources
Links to major genomics databases and tools