Aliases for SOAT1 Gene
External Ids for SOAT1 Gene
Previous HGNC Symbols for SOAT1 Gene
Previous GeneCards Identifiers for SOAT1 Gene
The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for SOAT1 Gene
SOAT1 (Sterol O-Acyltransferase 1) is a Protein Coding gene. Diseases associated with SOAT1 include focal dermal hypoplasia and homozygous familial hypercholesterolemia. Among its related pathways are cholesterol biosynthesis II (via 24,25-dihydrolanosterol) and Statin Pathway. GO annotations related to this gene include cholesterol binding and sterol O-acyltransferase activity. An important paralog of this gene is SOAT2.
UniProtKB/Swiss-Prot for SOAT1 Gene
Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.