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Literature summary for 2.3.1.43 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

Protein Variants Comment Organism
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

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
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 ?
-
?
phosphatidylcholine + cholesterol Homo sapiens
-
1-acylglycerophosphocholine + cholesteryl ester
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
plasma
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
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 ?
-
?
phosphatidylcholine + cholesterol
-
Homo sapiens 1-acylglycerophosphocholine + cholesteryl ester
-
?

Synonyms

Synonyms Comment Organism
LCAT
-
Homo sapiens
lecithin-cholesterol acyltransferase
-
Homo sapiens

Temperature Optimum [°C]

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