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Details of APOB gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| APOB | --- | P04114 | APOB_HUMAN | 338
| ENSG00000084674
| Apolipoprotein B-100
Apolipoprotein B-48 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Familial hypobetalipoproteinemia 1 (FHBL1) [MIM:107730]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
107730 |
Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. Note=The disease is caused by mutations affecting the gene represented in this entry. |
144010 |
Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia. |
144010 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Apob | --- | --- | Sp-Vtgn3 |
