APOB Chromosome 2
Apolipoprotein B
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What This Gene Does
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. 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, Dec 2019]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
2p24.1
Ensembl
ENSG00000084674
Associated Conditions (18)
Hypercholesterolemia
autosomal dominant
type B
Familial hypobetalipoproteinemia 1
Cardiovascular phenotype
Familial hypercholesterolemia
familial
1
APOB-related disorder
Warfarin response
Homozygous familial hypercholesterolemia
See cases
Gastric cancer
Malignant tumor of urinary bladder
3
Hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Early-onset coronary artery disease
Key Variants
RS1005934435
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, type B
Health Risk
RS1007149732
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, type B
Health Risk
RS1008238083
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, type B
Health Risk
RS1008392420
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Familial hypobetalipoproteinemia 1, Hypercholesterolemia
Health Risk
RS1020402380
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant
Health Risk
RS1029990195
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Familial hypobetalipoproteinemia 1, Hypercholesterolemia
Health Risk
RS1038269557
Conflicting classifications of pathogenicity
Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant
Health Risk
RS1038411462
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, type B
Health Risk
RS1047501521
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant
Health Risk
RS1060499841
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1160050088
Conflicting classifications of pathogenicity
Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant
Health Risk
RS1163833540
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, type B
Health Risk
All Variants (965)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2465364633 | Health Risk | Likely pathogenic | Hypobetalipoproteinemia, Hypobetalipoproteinemia |
| RS2465368117 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS2465368367 | Health Risk | Likely pathogenic | Familial hypercholesterolemia, Familial hypercholesterolemia |
| RS2465374787 | Health Risk | Likely pathogenic | Familial hypercholesterolemia, Familial hypercholesterolemia |
| RS2465380748 | Health Risk | Likely pathogenic | Hypobetalipoproteinemia, Hypobetalipoproteinemia |
| RS2465391637 | Health Risk | Likely pathogenic | Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1 |
| RS2465397269 | Health Risk | Likely pathogenic | APOB-related disorder, APOB-related disorder |
| RS2465421714 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS2465426269 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS2465438693 | Health Risk | Likely pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS2465441803 | Health Risk | Likely pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS2465459066 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS2465463570 | Health Risk | Likely pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS373251374 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS5742904 | Health Risk | Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS730880052 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS773475226 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS775345377 | Health Risk | Likely pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS797045253 | Health Risk | Likely pathogenic | Hypobetalipoproteinemia, Hypobetalipoproteinemia |
| RS867418897 | Health Risk | Likely pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS1043381693 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1135402762 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1135402764 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1135402765 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1135402766 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1186975248 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1188654362 | Health Risk | Pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS121918383 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS121918385 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia |
| RS121918387 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS121918388 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS121918389 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia |
| RS121918391 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1235521190 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1271191797 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1282116285 | Health Risk | Pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS1286460200 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1382988295 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1399892057 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS142017360 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS142066904 | Health Risk | Pathogenic | Cardiovascular phenotype, Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS1441446862 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1442815965 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS145143533 | Health Risk | Pathogenic | Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant |
| RS146538280 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant |
| RS1473455368 | Health Risk | Pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS147863759 | Health Risk | Pathogenic | Hypercholesterolemia, autosomal dominant, type B |
| RS1553382295 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1553382319 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |
| RS1553382325 | Health Risk | Pathogenic | Hypercholesterolemia, familial, 1 |