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hyperalphalipoproteinemia 1
Summary
- Synonym
-
- HALP1
- Definition
- A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
- Super Class
- autosomal dominant disease cholesterol-ester transfer protein deficiency
External Links
- Disease Ontology
- DOID:0111369
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P06858 | Lipoprotein lipase | |
| P11150 | Hepatic triacylglycerol lipase | |
| Q10471 | Polypeptide N-acetylgalactosaminyltransferase 2 | |
| Q9Y5X9 | Endothelial lipase |
