ABHD17B
Chr 9abhydrolase domain containing 17B, depalmitoylase
Also known as: C9orf77, CGI-67, FAM108B1
ABHD17B encodes a palmitoyl-(protein) hydrolase that removes fatty acid modifications from cysteine residues in proteins, including key neuronal proteins like PSD95 and GAP43. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.65), but no definitive human disease associations have been established to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ABHD17B · 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