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APOB

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.
Protein class

Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins

Predicted location

Secreted

Single cell type specificity

Group enriched (Hepatocytes, Proximal enterocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (Hep G2)

Interaction

Interacts with PCSK9 (PubMed:22580899). Interacts with MTTP (PubMed:26224785, PubMed:27206948). Interacts with AUP1 (PubMed:28183703).

Molecular function

Heparin-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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