ZDHHC20
Chr 13zDHHC palmitoyltransferase 20
Also known as: 4933421L13Rik, DHHC-20, DHHC20
ZDHHC20 encodes a palmitoyltransferase that catalyzes the addition of palmitate to cysteine residues in various protein substrates, including EGFR and CALHM1, thereby modulating protein localization and signaling. The gene shows low constraint to loss-of-function variants (pLI 0.0005, LOEUF 0.747), suggesting high tolerance to protein-truncating mutations. Disease associations and inheritance patterns for ZDHHC20 mutations have not been established in the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
ZDHHC20 · 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