Gene Information
apolipoprotein B [Source:HGNC Symbol;Acc:HGNC:603]
APOB variants are associated with 1 disease including homozygous familial hypercholesterolemia, with 22 documented clinical phenotypes.
The APOB gene is associated with 1 medical condition, including:
Research has identified 22 phenotypic features associated with APOB variants:
Reduced circulating vitamin A concentration
HP:0004905
Acanthocytosis
HP:0001927
Hypocholesterolemia
HP:0003146
Corneal arcus
HP:0001084
Increased LDL cholesterol concentration
HP:0003141
Reduced tendon reflexes
HP:0001315
Ataxia
HP:0001251
Infantile onset
HP:0003593
Decreased LDL cholesterol concentration
HP:0003563
Autosomal recessive inheritance
HP:0000007
Steatorrhea
HP:0002570
Retinal degeneration
HP:0000546
Coronary artery atherosclerosis
HP:0001677
Rod-cone dystrophy
HP:0000510
Hypertriglyceridemia
HP:0002155
ClinVar contains 10 variants associated with APOB. Below are some notable variants:
NM_000384.3(APOB):c.10167A>T (p.Arg3389Ser)
Uncertain significanceVCV004527986
Review: criteria provided, single submitter
NM_000384.3(APOB):c.4170C>G (p.His1390Gln)
Uncertain significanceVCV004527921
Review: criteria provided, single submitter
NM_000384.3(APOB):c.5843G>T (p.Gly1948Val)
Uncertain significanceVCV004527749
Review: criteria provided, single submitter
NM_000384.3(APOB):c.10342A>G (p.Thr3448Ala)
Uncertain significanceVCV004527615
Review: criteria provided, single submitter
NM_000384.3(APOB):c.12419C>T (p.Thr4140Ile)
Uncertain significanceVCV004527312
Review: criteria provided, single submitter
There are 2,830 publications about APOB indexed in PubMed. Below are some recent papers:
Metabolic Risk Factors Evaluation of Obstructive Sleep Apnea Among Patients with Polycystic Ovary Syndrome.
Ha LX, Wang JJ, Yuan YY
PMID: 41256762
•
2025
•
Int J Womens Health
Comparative Evaluation of the Mindray BS2000 and Roche Cobas 8000 Platforms using Serum HDL-C, LDL-C, Apo A1, Apo B, PA, and Fs-CRP.
Li R, Ruan X, Chen M
PMID: 41253471
•
2025 Sep
•
Ann Clin Lab Sci
The Efficacy and Safety of Plozasiran on Lipid Profile in Dyslipidemic Disorders: A Systematic Review and Meta-Analysis.
Sydhom P, Al-Quraishi B, Gohar A
PMID: 41251855
•
2025 Nov 18
•
Cardiovasc Drugs Ther
Apolipoprotein B48 as a Marker of Residual Coronary Risk: Diagnostic Insights from a Comparative Analysis with Ankle-Brachial Index.
Mori K, Monobe A, Okuma S
PMID: 41249045
•
2025 Oct 21
•
Kobe J Med Sci
Molecular profiling of hepatoid adenocarcinoma and adenocarcinoma with enteroblastic differentiation.
Matsumoto Y, Hatakeyama K, Terashima M
PMID: 41232140
•
2025 Nov 9
•
Surg Oncol
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Last updated: 11/20/2025