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Literature summary extracted from

  • Idzior-Walus, B.; Sieradzki, J.; Kostner, G.; Ma?ecki, M.T.; Klupa, T.; Weso?owska, T.; Rostworowski, W.; Hartwich, J.; Walu?, M.; Kie?, A.D.; Naruszewicz, M.
    Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family (2006), Atherosclerosis, 185, 413-420.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.43 V309M naturally occuring mutation in exon 6, the rare enzyme genetic disorder, familial LCAT deficiency, leads to corneal opacities and proteinuria with renal failure, phenotype analysis of a Polish family, the patients show 10% of control enzyme activity and highly reduced enzyme concentrations, low total HDL-cholesterol and cholesteryl ester concentrations, decreased apo AI and apo AII serum levels, low LDL-cholesterol and apoB and Lp levels, and increased oleate/linoleate ratios, in cholestryl esters, phenotype, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.3.1.43 extracellular
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.3.1.43 additional information Homo sapiens the rare enzyme genetic disorder, familial LCAT deficiency, leads to altered plasma lipid and lipoprotein levels, corneal opacities and proteinuria with renal failure, phenotype analysis, overview ?
-
 ?
2.3.1.43 phosphatidylcholine + cholesterol Homo sapiens
-
 1-acylglycerophosphocholine + cholesteryl ester
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.43 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.43 plasma
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
2.3.1.43 additional information
-
-
 Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.43 additional information the rare enzyme genetic disorder, familial LCAT deficiency, leads to altered plasma lipid and lipoprotein levels, corneal opacities and proteinuria with renal failure, phenotype analysis, overview Homo sapiens ?
-
 ?
2.3.1.43 phosphatidylcholine + cholesterol
-
 Homo sapiens 1-acylglycerophosphocholine + cholesteryl ester
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.43 LCAT
-
 Homo sapiens
2.3.1.43 lecithin-cholesterol acyltransferase
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
2.3.1.43 37
-
 assay at Homo sapiens