SOAT2, sterol O-acyltransferase 2, 8435

N. diseases: 25; N. variants: 2
Disease: Liver mass ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240225
Disease: Liver mass
Liver mass 		0.010 GeneticVariation phenotype BEFREE In the chow-fed mice, NPC1:SOAT2 double knockouts, compared with their littermates lacking only NPC1, had 20% less liver mass, 28% lower hepatic UC concentrations, and plasma alanine aminotransferase and aspartate aminotransferase activities that were decreased by 48% and 36%, respectively. mRNA expression levels for several markers of inflammation were all significantly lower in the NPC1 mutants lacking SOAT2. 29878847 2018