Aa1064 Ac1-060 Apo B-100 ApoB-100 ApoB-48 FCHL2 FLDB LDLCQ4
Gene Full Name
apolipoprotein B
Gene Summary
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. 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. [provided by RefSeq, Dec 2019]
Alternative Names
Apo B100 apo-B ApoB 100 ApoB 48 apolipo b apolipoprotein B apolipoprotein B (including Ag(x) antigen) Apolipoprotein B 100 Apolipoprotein B 48 apolipoprotein B PI apolipoprotein B precursor apolipoprotein B-100 apolipoprotein B-100 precursor apolipoprotein B-48 Apolipoprotein B100 apolipoprotein B100 precursor apolipoprotein B46 apolipoprotein B47 apolipoprotein B48 apolipoprotein B49 LOX-1 mCG_129875 MGC176318 Ox-LDL receptor 1 truncated apolipoprotein B-48