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Tangier disease
Summary
- Synonym
-
- familial alpha-lipoprotein deficiency
- familial high density lipoprotein deficiency
- Definition
- A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
- Super Class
- hypolipoproteinemia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1946 | EFNA5 | ephrin A5 | |
| 2271 | FH | fumarate hydratase | |
| 2822 | GPLD1 | glycosylphosphatidylinositol specific phospholipase D1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 3956 | LGALS1 | galectin 1 | |
| 4023 | LPL | lipoprotein lipase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55084 | Trifunctional enzyme subunit beta, mitochondrial | |
| P80108 | Phosphatidylinositol-glycan-specific phospholipase D | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q92187 | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase |
