ABHD17B

Chr 9

abhydrolase domain containing 17B, depalmitoylase

Also known as: C9orf77, CGI-67, FAM108B1

NCBI Gene: 51104ENSG00000107362UniProt: Q5VST6OMIM: 617943

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.65
Clinical Summary— ABHD17B
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
📋
ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 30 VUS of 74 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.65LOEUF
pLI 0.254
Z-score 2.39
OE 0.25 (0.11–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.62Z-score
OE missense 0.42 (0.34–0.51)
68 obs / 161.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.25 (0.11–0.65)
0≤0.351.4
Missense OE0.42 (0.34–0.51)
0≤0.61.4
Synonymous OE1.29
0≤1.21.6
LoF obs/exp: 3 / 11.9Missense obs/exp: 68 / 161.7Syn Z: -1.74

ClinVar Variant Classifications

74 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic7
VUS30
31
Pathogenic
7
Likely Pathogenic
30
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
7
0
7
VUS
0
21
9
0
30
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02147068

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients