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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 |
|---|---|---|---|
| 5320 | PLA2G2A | phospholipase A2 group IIA | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 8399 | PLA2G10 | phospholipase A2 group X | |
| 8809 | IL18R1 | interleukin 18 receptor 1 |
Related Glycoprotein
