Entrez gene ID | | 338 |
Official gene symbol | | APOB |
Full name | | apolipoprotein B (including Ag(x) antigen) |
Aliases | | ,FLDB,LDLCQ4, |
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] |
Location | | Chromosome: 2 Locus: 2p24-p23 |
Gene position | | 21266945 - 21224301 Map Viewer |
Gene orientation | | minus |
Gene size | | 42645 bp |
Gene sequence |
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OMIM ID | | 107730 |
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