apolipoprotein B
ap·o·lip·o·pro·tein B
[MIM*107730]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.