Apolipoprotein B is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL). It occurs in the plasma in 2 main forms, apoB48 and apoB100. The first is synthesized exclusively by the gut, the second by the liver.

Pathology

 germline mutations in:

• familial hypobetalipoproteinemia
• normotriglyceridemic abetalipoproteinemia
• familial hypercholesterolemia (MIM.144010)

References

 Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. Noto D, Cefalù AB, Cannizzaro A, Minà M, Fayer F, Valenti V, Barbagallo CM, Tuttolomondo A, Pinto A, Sciumè C, Licata G, Averna M. Atherosclerosis. 2009 Feb 2. PMID: 19344897