SOAT2
Description
The SOAT2 (sterol O-acyltransferase 2) is a protein-coding gene located on chromosome 12.
SOAT2 is an enzyme encoded by the SOAT2 gene. It is a member of a small family of Acyl-CoA:cholesterol acyltransferases. SOAT2 is a membrane-bound enzyme located in the endoplasmic reticulum. It produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. These cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. SOAT2 is involved in cholesterol absorption in the intestine and the assembly and secretion of apolipoprotein B-containing lipoproteins, such as very-low-density lipoprotein (VLDL). Several alternatively spliced transcript variants of the SOAT2 gene have been described, but their full-length nature is not known.
SOAT2 catalyzes the production of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. This process is involved in lipoprotein assembly and the absorption of dietary cholesterol. SOAT2 utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) and linolenoyl-CoA ((9Z,12Z,15Z)-octadecatrienoyl-CoA) as substrates. The cholesteryl esters produced by SOAT2 are thought to be important for lipoprotein secretion from both hepatocytes and intestinal mucosa.
SOAT2 is also known as ACACT2, ACAT2, ARGP2.
Associated Diseases
- neonatal intrahepatic cholestasis due to citrin deficiency
- type 1 diabetes mellitus
- glycogen storage disease VI
- congenital diarrhea 7 with exudative enteropathy
- progressive familial intrahepatic cholestasis
- cholesteryl ester storage disease
- familial apolipoprotein C-II deficiency
- hypertriglyceridemia 2
- pancreatic triacylglycerol lipase deficiency
- chylomicron retention disease
- cholesterol-ester transfer protein deficiency
- familial lipoprotein lipase deficiency
