Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
abetalipoproteinemia
Summary
- Synonym
-
- familial hypobetalipoproteinemia
- microsomal triglyceride transfer protein deficiency disease
- Definition
- A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
- Super Class
- autosomal recessive disease hypolipoproteinemia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1946 | EFNA5 | ephrin A5 | |
| 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 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| 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 |
