APOB

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APOB

A gene on chromosome 2p24-p23 that encodes apolipoprotein B, the main apoliprotein of chylomicrons and low-density lipoproteins, which appears in plasma as two main isoforms: apoB48 (which is synthesised exclusively in the gut) and apoB100 (which is synthesised in the liver).

Molecular pathology
APOB mutations cause hypobetalipoproteinaemia, normotriglyceridemic hypobetalipoproteinaemia, and hypercholesterolaemia due to ligand-defective apoB.