APOB
Chr 2ADARapolipoprotein B
This gene encodes apolipoprotein B, the main protein component of chylomicrons and low-density lipoproteins that serves as the ligand for LDL receptor-mediated uptake of cholesterol-containing particles. Mutations cause familial hypercholesterolemia type 2 and hypobetalipoproteinemia with both autosomal dominant and autosomal recessive inheritance patterns. The gene is highly intolerant to loss-of-function variants, reflecting its essential role in lipid metabolism.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and loss-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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APOB · 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
Impact of a Pro-diversity Gut Microbiota Diet After a Bariatric Surgery on Gut Microbiota, Eating Behaviour and Sensory Function
RECRUITINGEPIRUS FH Reverse Cascade Screening
NOT YET RECRUITINGLatvian Early Atherosclerosis Registry
RECRUITINGEvaluation of Risk of hEpatocellular Carcinoma
RECRUITINGFasting Effects on Metabolism and Immunity Study in Human
RECRUITINGItalian Digital Primary Cardiovascular Prevention Study
ACTIVE NOT RECRUITINGEfficacy of Cholesterol-lowering L. Plantarum on Cardiometabolic Health Biomarkers in Coeliac Disease Patients
ACTIVE NOT RECRUITINGSafety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients
NOT YET RECRUITINGEffects of Different Fish Oil Types on Type 2 Diabetes Risk Factors in High-Risk Adults
NOT YET RECRUITINGTargeting Risk Factors for Diabetes in Subjects With Normal Blood Cholesterol Using Omega-3 Fatty Acids
RECRUITINGBody Fat as Determinant of Female Gonadal Dysfunction
RECRUITINGDairy Lipids and Cardiometabolic Risk
RECRUITINGExternal Resources
Links to major genomics databases and tools