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RNA tissue category: Group enriched (duodenum, liver, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, liver, small intestine)
GENE INFORMATION
Gene name
APOB
Synonyms
Description
Apolipoprotein B (HGNC Symbol)
Entrez gene summary
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]