ABCD3
Chr 1ARADATP binding cassette subfamily D member 3
Also known as: ABC43, CBAS5, OPDM5, PMP70, PXMP1, ZWS2
This ATP-binding cassette transporter catalyzes the transport of long-chain fatty acids, dicarboxylic acids, and bile acids from the cytosol into peroxisomes for beta-oxidation. Mutations cause congenital bile acid synthesis defect type 5 and oculopharyngodistal myopathy type 5, inherited in either autosomal recessive or autosomal dominant patterns. The gene is moderately constrained against loss-of-function variants (LOEUF 0.435), reflecting its important role in peroxisomal fatty acid metabolism.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative 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
247 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 7 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 7 | 104 | 9 | 1 | 121 |
Likely Benign | 1 | 1 | 39 | 31 | 72 |
Benign | 0 | 1 | 16 | 5 | 22 |
Conflicting | — | 1 | |||
| Total | 9 | 106 | 72 | 37 | 225 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABCD3 · 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
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
RECRUITINGCharacterization of Microbiological and Genetic Features in Prostate Cancer and Their Association with Disease Stage
ENROLLING BY INVITATIONBiomarkers in the Etiology of Idiopathic Intracranial Hypertension
RECRUITINGHuman Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools