apolipoprotein B

(redirected from ApoB 100)

ap·o·lip·o·pro·tein B

[MIM*107730]
an apolipoprotein found in chylomicrons, LDL, VLDL, and IDL. Elevated in the plasma of patients with familial hyperlipoproteinemia; it exists in two forms, B-100 and B-48.

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.