Apolipoprotein B ist ein Gen, das durch das Symbol APOB kodiert wird. Andere Namen sind: Apolipoprotein B-100; Apo B-100; APOB. Apolipoprotein B hat eine Masse von 515.61kDa, eine Aminosäurelänge von 4563, und ist an folgenden Krankheiten beteiligt: Hypobetalipoproteinemia, familial, 1; Familial ligand-defective apolipoprotein B-100.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
Entrez Zusammenfassung
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels.
Rolle bei Krankheiten
Hypobetalipoproteinemia, familial, 1: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia.
Familial ligand-defective apolipoprotein B-100: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.
Posttranslationale Modifikation
Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
Zellort
Cytoplasm. Secreted.
