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Literature summary for 2.3.1.26 extracted from

  • He, X.; Leow, K.Y.; Yang, H.; Heng, C.K.
    Functional characterization of two single nucleotide polymorphisms of acyl-coenzyme A:cholesterol acyltransferase 2 (2015), Gene, 566, 236-241.
    View publication on PubMed

Application

Application Comment Organism
drug development the enzyme is a potential target for treating hypercholesterolemia Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
gene ACAT2, genotying, sequence comparison and phylogenetic analysis, two human ACAT2 gene polymorphisms have significant effects on 41A-G (Glu14Gly, rs9658625) and 734C-T (Thr254Ile, rs2272296), on plasma lipid levels and coronary artery disease susceptibility, recombinant expression of wild-tpe and mutant enzymes in ACAT-deficient AC-29 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
E14G naturally occuring polymorphism, the enzymatic activity of the mutant is approximately two times higher than the wild-type activity Homo sapiens
T254I naturally occuring polymorphism, the mutant shows enzyme the same enzyme activity as the wild-type Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O75908
-
-

Synonyms

Synonyms Comment Organism
ACAT2
-
Homo sapiens
acyl-coenzyme A:cholesterol acyltransferase 2
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Homo sapiens

Temperature Optimum [°C]

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

General Information

General Information Comment Organism
additional information two human ACAT2 gene polymorphisms have significant effects on 41A-G (Glu14Gly, rs9658625) and 734C-T (Thr254Ile, rs2272296), on plasma lipid levels and coronary artery disease susceptibility Homo sapiens
physiological function the enzyme plays a critical role in the formation of cholesteryl esters from cholesterol and fatty acids Homo sapiens