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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | - |
Homo sapiens | - |
- |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
plasma | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
- |
Homo sapiens |
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 | Comment | Organism |
---|---|---|
LCAT | - |
Homo sapiens |
lecithin-cholesterol acyltransferase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |