LIPA
Function
Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglycerides (1,2,3-triacylglycerol) and diglycerides (such as 1,2-diacylglycerol and 1,3-diacylglycerol) with preference for the acyl moieties at the sn-1 or sn-3 positions (PubMed:7204383, PubMed:8112342).
Involvement in disease
Cholesteryl ester storage disease
CESD
An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood.
None
The disease is caused by variants affecting the gene represented in this entry.
Wolman disease
WOLD
An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylation is not essential for catalytic activity.
Sequence Similarities
Belongs to the AB hydrolase superfamily. Lipase family.
Tissue Specificity
Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.
Cellular localization
- Lysosome
Alternative names
Lysosomal acid lipase/cholesteryl ester hydrolase, Acid cholesteryl ester hydrolase, LAL, Cholesteryl esterase, Diacylglycerol lipase, Lipase A, Sterol esterase, Triacylglycerol ester hydrolase, Triacylglycerol lipase, LIPA