ACBD4
Chr 17acyl-CoA binding domain containing 4
Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters
Clinical Summary— ACBD4
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.93LOEUF
pLI 0.000
Z-score 1.83
OE 0.58 (0.38–0.93)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.30Z-score
OE missense 0.94 (0.84–1.06)
197 obs / 209.1 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.58 (0.38–0.93)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.96
0≤1.21.6
LoF obs/exp: 13 / 22.3Missense obs/exp: 197 / 209.1Syn Z: 0.28
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACBD4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 4; ACBD4
MIM #619968 · *
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 →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
New insights into the functions of ACBD4/5-like proteins using a combined phylogenetic and experimental approach across model organisms.
Kors S et al.·Biochim Biophys Acta Mol Cell Res
2024Functional
Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.
Costello JL et al.·J Biol Chem
2023Open Access
Peroxisomal ACBD4 interacts with VAPB and promotes ER-peroxisome associations.
Costello JL et al.·Cell Cycle
2017Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Acyl-CoA Binding Domain Containing 4 Polymorphism rs4986172 and Expression Can Serve as Overall Survival Biomarkers for Hepatitis B Virus-Related Hepatocellular Carcinoma Patients After Hepatectomy
Huang H et al.·Pharmgenomics Pers Med
2022Cohort
Multi-omics analysis provides new insights into molecular mechanisms for waterfowl fatty liver formation
Qi J et al.·Poult Sci
2025Functional
The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models
Dawes ML et al.·Front Mol Neurosci
2025Cohort
Acyl-coA binding protein AcbdA is required for peroxisome hitchhiking on early endosomes in Aspergillus nidulans.
Driscoll B et al.·Mol Biol Cell
2025
Acyl-coA binding protein AcbdA regulates peroxisome hitchhiking on early endosomes
Driscoll B et al.·bioRxiv
2025
Genetic architectures of the human hippocampus and those involved in neuropsychiatric traits.
Ning C et al.·BMC Med
2024
Top 7 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools