| D007862 |
Phosphatidylcholine-Sterol O-Acyltransferase |
An enzyme secreted from the liver into the plasma of many mammalian species. It catalyzes the esterification of the hydroxyl group of lipoprotein cholesterol by the transfer of a fatty acid from the C-2 position of lecithin. In familial lecithin:cholesterol acyltransferase deficiency disease, the absence of the enzyme results in an excess of unesterified cholesterol in plasma. |
Lecithin Cholesterol Acyltransferase,Cholesterol Ester Lysolecithin Acyltransferase,Lecithin Acyltransferase,Phosophatidylcholine-Sterol Acyltransferase,Acyltransferase, Lecithin,Acyltransferase, Lecithin Cholesterol,Acyltransferase, Phosophatidylcholine-Sterol,Cholesterol Acyltransferase, Lecithin,O-Acyltransferase, Phosphatidylcholine-Sterol,Phosophatidylcholine Sterol Acyltransferase,Phosphatidylcholine Sterol O Acyltransferase |
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| D007863 |
Lecithin Cholesterol Acyltransferase Deficiency |
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. |
Dyslipoproteinemic Corneal Dystrophy,Fish-Eye Disease,LCAT Deficiency,LCATA Deficiency,Lecithin:Cholesterol Acyltransferase Deficiency,Norum Disease,alpha-LCAT Deficiency,alpha-Lecithin-Cholesterol Acyltransferase Deficiency,alpha-Lecithin:Cholesterol Acyltransferase Deficiency,Acyltransferase Deficiency, Lecithin:Cholesterol,Corneal Dystrophy, Dyslipoproteinemic,Deficiency, LCAT,Deficiency, alpha-LCAT,Fish Eye Disease,LCATA Deficiencies,alpha LCAT Deficiency |
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| D008052 |
Lipid Metabolism, Inborn Errors |
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. |
Lipid Metabolism, Inborn Error |
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| D008074 |
Lipoproteins |
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes. |
Circulating Lipoproteins,Lipoprotein,Lipoproteins, Circulating |
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| D008107 |
Liver Diseases |
Pathological processes of the LIVER. |
Liver Dysfunction,Disease, Liver,Diseases, Liver,Dysfunction, Liver,Dysfunctions, Liver,Liver Disease,Liver Dysfunctions |
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| D002788 |
Cholesterol Esters |
Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. |
Cholesterol Ester,Cholesteryl Ester,Cholesteryl Esters,Ester, Cholesterol,Ester, Cholesteryl,Esters, Cholesterol,Esters, Cholesteryl |
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| D004195 |
Disease Models, Animal |
Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. |
Animal Disease Model,Animal Disease Models,Disease Model, Animal |
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| D005260 |
Female |
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Females |
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| D005688 |
Galactosamine |
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| D000217 |
Acyltransferases |
Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (From Enzyme Nomenclature 1992) EC 2.3. |
Acyltransferase |
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