LongevityMap Gene
Gene details
- HGNC symbol
- APOB
- Aliases
- FLDB; LDLCQ4; apoB-48; apoB-100
- Common name
- apolipoprotein B
- Description
- 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]
- Cytogenetic Location
- 2p24.1
- UCSC Genome Browser
- View 2p24.1 on the UCSC genome browser
- OMIM
- 107730
- Ensembl
- ENSG00000084674
- UniProt/Swiss-Prot
- APOB_HUMAN
- Entrez Gene
- 338
- UniGene
- 120759
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- apobb.1
- Danio rerio
- apobb.2
- Danio rerio
- apoba
- Drosophila melanogaster
- Rfabg
- Mus musculus
- Apob
- Rattus norvegicus
- Apob
Studies (3)
Significant/Non-significant: 2/1
Study 1
- Longevity Association
- Non-significant
- Population
- Finnish
- Study Design
- The apolipoprotein B Xba I polymorphism was examined in 179 Finnish centenarians
- Conclusions
- The frequencies of the Xba I alleles among the centenarians and among the young Finns were not significantly different
- Indentifier
- APOB
- Reference
Study 2
- Longevity Association
- Significant
- Population
- Finnish
- Study Design
- The apolipoprotein B EcoRI and Xba I polymorphisms were examined in Finnish nonagenarians
- Conclusions
- The frequency of the EcoRI allele R- was somewhat lower in the nonagenarians, particularly in women. The allele frequency for the Xba I polymorphism did not differ between the nonagenarians and the younger groups.
- Indentifier
- APOB
- Reference
Study 3
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- A sample of 143 centenarians and a control sample of 158 individuals were examined for polymorphism in APOB restriction fragment length (RFLP) (XbaI2488 and EcoRI4154) and variable number of tandem repeat (VNTR) (3'APOB-VNTR) polymorphisms
- Conclusions
- Neither the XbaI-RFLP nor the EcoRI-RFLP was able to discriminate between centenarians and controls, while the 3'APOB-VNTR multiallelic system revealed significant differences between the samples: the frequency of alleles with fewer than 35 repeats was lower in centenarians than in controls
- Indentifier
- APOB
- Reference