APOB Antibody – Rabbit Polyclonal

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. 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, Jul 2008]

APOB: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. Defects in APOB are a cause of familial hypobetalipoproteinemia type 1 (FHBL1). A disorder characterized by highly reduced plasma concentrations of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Defects in APOB are a cause of familial ligand-defective apolipoprotein B-100 (FDB). FDB is a dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

Protein type: Carrier; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 2p24-p23

Cellular Component: actin cytoskeleton; cell soma; chylomicron; cytoplasm; cytosol; early endosome; endoplasmic reticulum lumen; endoplasmic reticulum membrane; endosome membrane; extracellular region; extracellular space; Golgi apparatus; intracellular membrane-bound organelle; plasma membrane

Molecular Function: cholesterol transporter activity; heparin binding; low-density lipoprotein receptor binding; phospholipid binding; protein binding

Biological Process: artery morphogenesis; blood coagulation; cholesterol efflux; cholesterol homeostasis; cholesterol metabolic process; cholesterol transport; fat-soluble vitamin metabolic process; fertilization; in utero embryonic development; leukocyte migration; lipoprotein biosynthetic process; lipoprotein catabolic process; lipoprotein metabolic process; lipoprotein transport; nervous system development; phototransduction, visible light; post-embryonic development; receptor-mediated endocytosis; regulation of cholesterol biosynthetic process; response to carbohydrate stimulus; response to lipopolysaccharide; response to selenium ion; response to virus; retinoid metabolic process; sperm motility; spermatogenesis; triacylglycerol catabolic process; triacylglycerol mobilization; vitamin metabolic process

Disease: Hypercholesterolemia, Autosomal Dominant, Type B; Hypobetalipoproteinemia, Familial, 1