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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for APOB (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID338
Official gene symbolAPOB
Full nameapolipoprotein B (including Ag(x) antigen)
Aliases,FLDB,LDLCQ4,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2p24-p23
Gene position21266945 - 21224301  Map Viewer
Gene orientationminus
Gene size42645 bp
Gene sequence
OMIM ID107730