Recombinant Human Apolipoprotein B-100 (APOB), Truncated

Uniprot Id

P04114

Target Species

Human

Target Name

APOB

Target Full Name

Apolipoprotein B-100

Target Function

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.

Target Involvement

Hypobetalipoproteinemia, familial, 1 (FHBL1); Familial ligand-defective apolipoprotein B-100 (FDB)

Target Subcellular Location

Cytoplasm. Secreted. Lipid droplet.

Target Research Area

Epigenetics and Nuclear Signaling, Cardiovascular

Target Synonyms

Apo B 100; Apo B; Apo B-100; Apo B-48; Apo B100; Apo B48; ApoB 100 ; ApoB 48; APOB; APOB_HUMAN; Apolipoprotein B (including Ag(x) antigen); Apolipoprotein B 100; Apolipoprotein B 48; Apolipoprotein B; Apolipoprotein B-48; Apolipoprotein B100; Apolipoprotein B48; FLDB; LDLCQ4

Target Background

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.